1. Alesi V, Bertoli M, Barrano G, Torres B, Pusceddu S, Pastorino M, Perria C, Nardone AM, Novelli A, Serra G. {{335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features}}. {Gene}. 2012; 505(2): 384-7.
About 10% of causative mutations for mental retardation in male patients involve X chromosome (X-linked mental retardation, XLMR). We describe a case of a 3-year-old boy presenting with developmental delay, autistic features and growth and speech delay. Array-CGH analysis detected a microduplication on the X chromosome (Xp11.2p11.3), spanning 335.4kb and including 3 known genes (ZNF81, ZNF182 and SPACA5). Genome-wide association studies show that approximately 30% of mutations causing XLMR are located in Xp11.2p11.3, where few pathogenic genes have been identified to date (such as ZNF41, PQB1 and ZNF81). ZNF81 codifies a zinc finger protein and mutations (non-sense mutations, deletions and structural rearrangements) involving this gene have already been described in association with mental retardation. Larger duplications in the same region have also been observed in association with mental retardation, and, in one case, the over-expression of ZNF81 has also been verified by mRNA quantification. No duplications of the single gene have been identified. To our knowledge, the microduplication found in our patient is the smallest ever described in Xp11.2p11.3. This suggests that the over-expression of ZNF81 could have pathological effects.
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2. Alwinesh MT, Joseph RB, Daniel A, Abel JS, Shankar SR, Mammen P, Russell S, Russell PS. {{Psychometrics and utility of Psycho-Educational Profile-Revised as a developmental quotient measure among children with the dual disability of intellectual disability and autism}}. {J Intellect Disabil}. 2012; 16(3): 193-203.
There is no agreement about the measure to quantify the intellectual/developmental level in children with the dual disability of intellectual disability and autism. Therefore, we studied the psychometric properties and utility of Psycho-Educational Profile-Revised (PEP-R) as a developmental test in this population. We identified 116 children with dual disability from the day care and inpatient database of a specialised Autism Clinic. Scale and domain level scores of PEP-R were collected and analyzed. We examined the internal consistency, domain-total correlation of PEP-R and concurrent validity of PEP-R against Gesell’s Developmental Schedule, inter-rater and test-retest reliability and utility of PEP-R among children with dual disability in different ages, functional level and severity of autism. Besides the adequate face and content validity, PEP-R demonstrates a good internal consistency (Cronbach’s alpha ranging from 0.91 to 0.93) and domain-total correlation (ranging from 0.75 to 0.90). The inter-rater reliability (intraclass correlation coefficient, ICC = 0.96) and test-retest reliability (ICC = 0.87) for PEP-R is good. There is moderate-to-high concurrent validity with GDS (r ranging from 0.61 to 0.82; all Ps = 0.001). The utility of PEP-R as a developmental measure was good with infants, toddlers, pre-school and primary school children. The ability of PEP-R to measure the developmental age was good, irrespective of the severity of autism but was better with high-functioning children. The PEP-R as an intellectual/developmental test has strong psychometric properties in children with dual disability. It could be used in children with different age groups and severity of autism. PEP-R should be used with caution as a developmental test in children with dual disability who are low functioning.
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3. Anckarsater H, Hofvander B, Billstedt E, Gillberg IC, Gillberg C, Wentz E, Rastam M. {{The sociocommunicative deficit subgroup in anorexia nervosa: autism spectrum disorders and neurocognition in a community-based, longitudinal study}}. {Psychol Med}. 2012; 42(9): 1957-67.
BACKGROUND: A subgroup of persons with anorexia nervosa (AN) have been proposed to have sociocommunicative problems corresponding to autism spectrum disorders [ASDs, i.e. DSM-IV pervasive developmental disorders (PDDs): autistic disorder, Asperger’s disorder, PDD not otherwise specified (NOS)]. Here, clinical problems, personality traits, cognitive test results and outcome are compared across 16 subjects (32%) with teenage-onset AN who meet or have met ASD criteria (AN+ASD), 34 ASD-negative AN subjects and matched controls from a longitudinal Swedish study including four waves of independent assessments from the teens to the early thirties. Method The fourth wave included the Structured Clinical Interview for DSM-IV (SCID)-I and the SCID-II (cluster C, i.e. ‘anxious’ PDs) interviews, the Asperger Syndrome Diagnostic Interview, self-assessments by the Autism Spectrum Quotient and the Temperament and Character Inventory, neurocognitive tests by subscales from the Wechsler scales, continuous performance tests, Tower of London, and Happe’s cartoons. RESULTS: The ASD assessments had substantial inter-rater reliability over time (Cohen’s kappa between 0.70 and 0.80 with previous assessments), even if only six subjects had been assigned a diagnosis of an ASD in all four waves of the study, including retrospective assessments of pre-AN neurodevelopmental problems. The AN+ASD group had the highest prevalence of personality disorders and the lowest Morgan-Russell scores. The non-ASD AN group also differed significantly from controls on personality traits related to poor interpersonal functioning and on neurocognitive tests. CONCLUSIONS: A subgroup of subjects with AN meet criteria for ASDs. They may represent the extreme of neurocognitive and personality problems to be found more generally in AN.
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4. Assouline SG, Foley Nicpon M, Dockery L. {{Predicting the academic achievement of gifted students with autism spectrum disorder}}. {J Autism Dev Disord}. 2012; 42(9): 1781-9.
We are not well informed regarding the ability-achievement relationship for twice-exceptional individuals (very high cognitive ability and a diagnosed disability, e.g., autism spectrum disorder [ASD]). The research question for this investigation (N = 59) focused on the predictability of achievement among variables related to ability and education in a twice-exceptional sample of students (cognitive ability of 120 [91st percentile], or above, and diagnosed with ASD). We determined that WISC-IV Working Memory and Processing Speed Indices were both significantly positively correlated with achievement in math, reading, and written language. WISC Perceptual Reasoning Index was uniquely predictive of Oral Language test scores. Unexpected findings were that ASD diagnosis, Verbal Comprehension Index, and forms of academic acceleration were not related to the dependent variables.
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5. Barbaro J, Dissanayake C. {{Developmental profiles of infants and toddlers with autism spectrum disorders identified prospectively in a community-based setting}}. {J Autism Dev Disord}. 2012; 42(9): 1939-48.
This prospective, longitudinal, study charted the developmental profiles of young children with Autism Spectrum Disorders (ASD) identified through routine developmental surveillance. 109 children with Autistic Disorder (AD), ‘broader’ ASD, and developmental and/or language delays (DD/LD) were assessed using the Mullen Scales of Early Learning (MSEL) at 12-months (n = 10 assessments), 18-months (n = 45 assessments), and 24-months (n = 99 assessments). The children with AD performed most poorly, overall, than the ASD and DD/LD groups on the MSEL. Furthermore, the children with AD/ASD displayed an uneven cognitive profile, with poorer performance on verbal (particularly receptive language) relative to nonverbal skills. There was also evidence of developmental slowing in verbal skills from 18- to 24-months for children on the spectrum, especially those with AD. Given that the poor receptive, relative to expressive, language profile emerges very early in life for children with AD/ASD, this cognitive profile may serve as an additional red flag to social attention and communication deficits. Receptive language should therefore be stringently monitored in any developmental surveillance program for autism spectrum disorders in the second year of life.
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6. Barber AB, Wetherby AM, Chambers NW. {{Brief report: repetitive behaviors in young children with autism spectrum disorder and developmentally similar peers: a follow up to watt et Al. (2008)}}. {J Autism Dev Disord}. 2012; 42(9): 2006-12.
The present study extended the findings of Watt et al. (J Autism Dev Disord 38:1518-1533, 2008) by investigating repetitive and stereotyped behaviors (RSB) demonstrated by children (n = 50) and typical development (TD; n = 50) matched on developmental age, gender, and parents’ education level. RSB were coded from videotaped Communication and Symbolic Behavior Scales Behavior Samples (Wetherby and Prizant 2002) using the Noldus Pro Observer(c) video software. Children with ASD demonstrated significantly higher frequencies of RSB with body objects excluding categories involving banging or tapping objects or surfaces. Behaviors demonstrated by both groups indicated overlapping RSB profiles at this age. These findings highlight the significance of RSB in the early identification and support the need for future research to further determine ASD-specific RSB.
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7. Blanche EI, Reinoso G, Chang MC, Bodison S. {{Proprioceptive processing difficulties among children with autism spectrum disorders and developmental disabilities}}. {Am J Occup Ther}. 2012; 66(5): 621-4.
OBJECTIVE. Sensory processing difficulties among children with autism spectrum disorders (ASD) have been extensively documented. However, less is known about this population’s ability to process proprioceptive information. METHOD. We used the Comprehensive Observations of Proprioception (COP; Blanche, Bodison, Chang, & Reinoso, in press) to describe the proprioceptive difficulties experienced by children with ASD. A sample of 32 children with ASD, 26 children with developmental disabilities excluding ASD, and 28 typically developing control children were studied using the COP. RESULTS. Children with ASD present with proprioceptive processing difficulties that are different from those of children with developmental disabilities and their typically developing counterparts. Specific data, potential clinical applications, and directions for future research are described. CONCLUSION. Results suggest that the COP has useful clinical research applications. Further assessment of psychometric properties, clinical utility, and meaningful differences among diverse clinical populations are needed.
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8. Bravo Oro A, Vazquez Briseno J, Cuello Garcia CA, Calderon Sepulveda RF, Hernandez Villalobos AM, Esmer Sanchez C. {{Early manifestations of autism spectrum disorders. Experience of 393 cases in a paediatric neurology}}. {Neurologia}. 2012; 27(7): 414-20.
INTRODUCTION: Autism spectrum disorders are group of conditions characterised by qualitative impairments in social communication, interaction, and imagination, and by a restricted range of interests and typical repetitive behaviours. Frequently, there is a delay in the age of detection, and therefore in starting multidisciplinary evaluations and interventions, which may result in a poorer prognosis and reduced quality of life for both children and parents. The aim of our study was to describe clinical and epidemiological data including the age of detection and main initial complaints present in children with autism disorders referred to a paediatric neurology centre. PATIENTS AND METHODS: A total of 393 medical records of consecutive cases diagnosed with an autism spectrum disorder were reviewed. RESULTS: Autism was diagnosed in 82.1% of the cases, unspecified pervasive disorder in 9.9%, Asperger syndrome in 4.8%, and Rett syndrome in 3%. Sixty percent of autistic children presented with a language disorder as their main complaint. The average age of detection was 4 years. CONCLUSIONS: Compared with other countries, age of detection is delayed. Primary care-based screening and surveillance are required in order to improve prognosis and quality of life of children with an autism spectrum disorder.
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9. Brookman-Frazee L, Drahota A, Stadnick N, Palinkas LA. {{Therapist perspectives on community mental health services for children with autism spectrum disorders}}. {Adm Policy Ment Health}. 2012; 39(5): 365-73.
This mixed methods study examined therapist perspectives on serving children with autism spectrum disorders (ASD) in community mental health (CMH) clinics. One hundred therapists completed a survey about their experiences with this population and 17 participated in subsequent focus groups to clarify and expand survey results. Results indicate that CMH therapists serve many children with ASD for behavior or other psychiatric problems and perceive serving this population as challenging and frustrating due to their limited training. Therapists are highly motivated for comprehensive ASD training on ASD characteristics and intervention strategies. These data were used to tailor and package evidence-based intervention strategies for delivery in CMH services.
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10. Buitenhuis S, van Wijlen-Hempel RS, Pondaag W, Malessy MJ. {{Obstetric brachial plexus lesions and central developmental disability}}. {Early Hum Dev}. 2012; 88(9): 731-4.
AIMS: First, to assess whether children with an Obstetric Brachial Plexus Lesion (OBPL) have a higher incidence of Central Developmental Disability (CDD) compared to the general population. Second, to test the ability of General Movements (GMs) to identify CDD children already at three months of age. STUDY DESIGN: A prospective cohort study for infants referred to our tertiary nerve lesion clinic. SUBJECTS: A prospective cohort study of 38 infants with OBPL followed until 5years (mean age). OUTCOME: Measures quality of fidgety GMs at 3months; presence or absence of CDD at a mean age of 5years; severity of the brachial plexus lesion. RESULTS: Five patients (13%) had CDD: one patient had a cerebral palsy and four showed definite other motor and/or mental problems. There was no correlation between the quality of the GMs at three months and CDD. There was no correlation between the severity of the nerve lesion and CDD. We found a correlation between quality of the GMs and severity of the nerve lesion. CONCLUSION: Children with OBPL have a high incidence of CDD. In our cohort fidgety GMs had no predictive value for CDD at a later age.
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11. Cadman T, Eklund H, Howley D, Hayward H, Clarke H, Findon J, Xenitidis K, Murphy D, Asherson P, Glaser K. {{Caregiver burden as people with autism spectrum disorder and attention-deficit/hyperactivity disorder transition into adolescence and adulthood in the United kingdom}}. {J Am Acad Child Adolesc Psychiatry}. 2012; 51(9): 879-88.
OBJECTIVE: There is increasing recognition that autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are associated with significant costs and burdens. However, research on their impact has focused mostly on the caregivers of young children; few studies have examined caregiver burden as children transition into adolescence and young adulthood, and no one has compared the impact of ASD to other neurodevelopmental disorders (e.g., ADHD). METHOD: We conducted an observational study of 192 families caring for a young person (aged 14 to 24 years) with a childhood diagnosis of ASD or ADHD (n = 101 and n = 91, respectively) in the United Kingdom. A modified stress-appraisal model was used to investigate the correlates of caregiver burden as a function of family background (parental education), primary stressors (symptoms), primary appraisal (need), and resources (use of services). RESULTS: Both disorders were associated with a high level of caregiver burden, but it was significantly greater in ASD. In both groups, caregiver burden was mainly explained by the affected young person’s unmet need. Domains of unmet need most associated with caregiver burden in both groups included depression/anxiety and inappropriate behavior. Specific to ASD were significant associations between burden and unmet needs in domains such as social relationships and major mental health problems. CONCLUSIONS: Adolescence and young adulthood are associated with high levels of caregiver burden in both disorders; in ASD, the level is comparable to that reported by persons caring for individuals with a brain injury. Interventions are required to reduce caregiver burden in this population.
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12. Caron KG, Schaaf RC, Benevides TW, Gal E. {{Cross-cultural comparison of sensory behaviors in children with autism}}. {Am J Occup Ther}. 2012; 66(5): e77-80.
Parents of children with autism frequently report that their children exhibit unusual responses to sensory experiences. Little research is available, however, describing how parents’ and children’s culture and environment might influence parents’ reports of their children’s behaviors. This study compared the frequency of parent-reported responses to sensory experiences in children from two countries-Israel and the United States. We administered the Short Sensory Profile to primary caregivers of children with autism spectrum disorders (ASD) and typically developing peers. Results indicate that Israeli parents reported unusual responses to sensory experiences less frequently than U.S. parents for both ASD and typically developing children. U.S. children with ASD demonstrated significantly greater difficulty in the Auditory Filtering and Visual/Auditory Sensitivity domains than Israeli children with ASD. These findings indicate a need to further explore the influence of culture and environment on caregiver perceptions of the responses to sensory experiences of children with ASD.
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13. Chang MC, Parham LD, Blanche EI, Schell A, Chou CP, Dawson M, Clark F. {{Autonomic and behavioral responses of children with autism to auditory stimuli}}. {Am J Occup Ther}. 2012; 66(5): 567-76.
OBJECTIVES. We examined whether children with and without autism spectrum disorder (ASD) differ in autonomic activity at rest and in response to auditory stimuli and whether behavioral problems related to sounds in everyday life are associated with autonomic responses to auditory stimuli. METHOD. We measured skin conductance (SC) at rest and in response to auditory stimuli as well as behavioral responses using the Sensory Processing Measure (SPM) Home Form. Participants were 25 children with ASD and 25 typically developing (TD) children, aged 5-12 yr. RESULTS. The ASD group had significantly higher resting SC and stronger SC reactivity to tones than the TD group. Correlations between SC and SPM indicated that more severe auditory behavioral difficulties were associated with higher sympathetic activation at rest and stronger sympathetic reactivity to sound. CONCLUSION. High sympathetic reactivity to sound may underlie the difficult behavioral responses to sound that children with ASD often demonstrate.
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14. Cheely CA, Carpenter LA, Letourneau EJ, Nicholas JS, Charles J, King LB. {{The prevalence of youth with autism spectrum disorders in the criminal justice system}}. {J Autism Dev Disord}. 2012; 42(9): 1856-62.
Past surveys have reported high rates of youth with disabilities in the juvenile justice system, however, little research has examined the frequency with which youth with Autism spectrum disorders (ASD) are in contact with law enforcement. Using records linkage with the Department of Juvenile Justice and the South Carolina Law Enforcement Division and the South Carolina Autism and Developmental Disabilities Monitoring Program (SC ADDM), this study compares the frequency, type, and outcome of criminal charges for youth with ASD and non-ASD youth. Youth with ASD had higher rates of crimes against persons and lower rates of crimes against property. Youth with ASD were more likely to be diverted into pre-trial interventions and less likely to be prosecuted than comparison youth. When compared to the overall SC ADDM sample, charged youth were less likely to have comorbid intellectual disability.
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15. Cohen-Ophir M, Castel-Deutsh T, Tirosh E. {{Autism in early childhood: an unusual developmental course-three case reports}}. {Case Rep Psychiatry}. 2012; 2012: 946109.
Autistic spectrum disorder (ASD) is typically characterized by either an emerging and gradual course or developmental regression in early childhood. The versatile clinical course is progressively acknowledged in recent years. Children with developmental disorders in general are referred to the Child Development Center for a multidisciplinary assessment, investigation, treatment and followup. We report three infants with an initial diagnosis of developmental delays, recovery of normal development following intervention in a multidisciplinary center, and subsequent regression into classic autism following their discharge from the program. An extensive medical workup was noncontributory. This unusual presentation, to our knowledge not reported previously, should be recognized by professionals involved in child development and psychiatry.
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16. Connolly JJ, Glessner JT, Hakonarson H. {{A Genome-Wide Association Study of Autism Incorporating Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale}}. {Child Dev}. 2012.
Efforts to understand the causes of autism spectrum disorders (ASDs) have been hampered by genetic complexity and heterogeneity among individuals. One strategy for reducing complexity is to target endophenotypes, simpler biologically based measures that may involve fewer genes and constitute a more homogenous sample. A genome-wide association study of 2,165 participants (mean age = 8.95 years) examined associations between genomic loci and individual assessment items from the Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale. Significant associations with a number of loci were identified, including KCND2 (overly serious facial expressions), NOS2A (loss of motor skills), and NELL1 (faints, fits, or blackouts). These findings may help prioritize directions for future genomic efforts.
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17. Cornew L, Roberts TP, Blaskey L, Edgar JC. {{Resting-state oscillatory activity in autism spectrum disorders}}. {J Autism Dev Disord}. 2012; 42(9): 1884-94.
Neural oscillatory anomalies in autism spectrum disorders (ASD) suggest an excitatory/inhibitory imbalance; however, the nature and clinical relevance of these anomalies are unclear. Whole-cortex magnetoencephalography data were collected while 50 children (27 with ASD, 23 controls) underwent an eyes-closed resting-state exam. A Fast Fourier Transform was applied and oscillatory activity examined from 1 to 120 Hz at 15 regional sources. Associations between oscillatory anomalies and symptom severity were probed. Children with ASD exhibited regionally specific elevations in delta (1-4 Hz), theta (4-8 Hz), alpha (8-12 Hz), and high frequency (20-120 Hz) power, supporting an imbalance of neural excitation/inhibition as a neurobiological feature of ASD. Increased temporal and parietal alpha power was associated with greater symptom severity and thus is of particular interest.
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18. Crivelli B, Rocca P. {{Differential diagnosis between schizophrenia and autism in adulthood: A case report}}. {Neurocase}. 2012.
The clinical distinction between autism spectrum disorders (ASD), also called pervasive developmental disorders (PDD), and schizophrenia is often difficult to make. Here we describe a case of an adult patient presenting with a diagnosis of schizophrenia based on a history of functional deterioration and presumed persecutory delusions. A psychiatric and psychological assessment conducted from a developmental perspective, in association with direct observation and neuropsychological evaluation for intellectual disabilities and autism, led to a diagnosis of PDD not otherwise specified, with revision of the initial diagnosis of schizophrenia.
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19. Dunn W, Cox J, Foster L, Mische-Lawson L, Tanquary J. {{Impact of a contextual intervention on child participation and parent competence among children with autism spectrum disorders: a pretest-posttest repeated-measures design}}. {Am J Occup Ther}. 2012; 66(5): 520-8.
OBJECTIVE. We tested an occupational therapy contextual intervention for improving participation in children with autism spectrum disorders and for developing parental competence. METHOD. Using a repeated-measures pretest-posttest design, we evaluated the effectiveness of a contextually relevant reflective guidance occupational therapy intervention involving three components: authentic activity settings, family’s daily routines, and the child’s sensory processing patterns (Sensory Profile). We used these components to coach 20 parents in strategies to support their child’s participation. Intervention sessions involved reflective discussion with parents to support them in identifying strategies to meet their goals and make joint plans for the coming week. We measured child participation (Canadian Occupational Performance Measure, Goal Attainment Scaling) and parent competence (Parenting Sense of Competence, Parenting Stress Index). RESULTS. Results indicated that parents felt more competent and children significantly increased participation in everyday life, suggesting that this approach is an effective occupational therapy intervention.
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20. Eriksson MA, Westerlund J, Anderlid BM, Gillberg C, Fernell E. {{First-degree relatives of young children with autism spectrum disorders: some gender aspects}}. {Res Dev Disabil}. 2012; 33(5): 1642-8.
Prenatal risk factors, with special focus on gender distribution of neurodevelopmental and psychiatric conditions were analysed in first-degree relatives in a population-based group of young children with autism spectrum disorders (ASD). Multiple information sources were combined. This group was contrasted with the general population regarding data from the Swedish Medical Birth register. In the ASD group, information was also obtained at parental interviews focusing on developmental and psychiatric disorders in the family. Compared to the general population, fathers of children with ASD were older and parents more often of non-European origin. Mothers of children with ASD had an increased rate of antidepressant and psychoactive medication use, and of scheduled caesarean sections. Fathers and brothers of children with ASD had high rates of ASD including the broader phenotype. Mothers of children with ASD had high rates of depression and other psychiatric disorders. These findings, hypothetically, could reflect a different ASD phenotype and difficulties diagnosing ASD in females or be an example of the close genetic relation between ASD and other psychiatric disorders. The results suggest that, in clinical and research settings, the familial background in ASD should be reviewed with a broader approach, and not be restricted to « looking out » only for diagnoses and symptoms traditionally accepted as being part of or typical of ASD. The high rate of parents of non-European origin has been noted in many Swedish studies of ASD, but the reason for this association, remains unclear.
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21. Evans EW, Must A, Anderson SE, Curtin C, Scampini R, Maslin M, Bandini L. {{Dietary Patterns and Body Mass Index in Children with Autism and Typically Developing Children}}. {Res Autism Spectr Disord}. 2012; 6(1): 399-405.
To determine whether dietary patterns (juice and sweetened non-dairy beverages, fruits, vegetables, fruits & vegetables, snack foods, and kid’s meals) and associations between dietary patterns and body mass index (BMI) differed between 53 children with autism spectrum disorders (ASD) and 58 typically developing children, ages 3 to 11, multivariate regression models including interaction terms were used. Children with ASD were found to consume significantly more daily servings of sweetened beverages (2.6 versus 1.7, p=0.03) and snack foods (4.0 versus 3.0, p=0.01) and significantly fewer daily servings of fruits and vegetables (3.1 versus 4.4, p=0.006) than typically developing children. There was no evidence of statistical interaction between any of the dietary patterns and BMI z-score with autism status. Among all children, fruits and vegetables (p=0.004) and fruits alone (p=0.005) were positively associated with BMI z-score in our multivariate models. Children with ASD consume more energy-dense foods than typically developing children; however, in our sample, only fruits and vegetables were positively associated with BMI z-score.
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22. Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JP. {{Consensus paper: pathological role of the cerebellum in autism}}. {Cerebellum}. 2012; 11(3): 777-807.
There has been significant advancement in various aspects of scientific knowledge concerning the role of cerebellum in the etiopathogenesis of autism. In the current consensus paper, we will observe the diversity of opinions regarding the involvement of this important site in the pathology of autism. Recent emergent findings in literature related to cerebellar involvement in autism are discussed, including: cerebellar pathology, cerebellar imaging and symptom expression in autism, cerebellar genetics, cerebellar immune function, oxidative stress and mitochondrial dysfunction, GABAergic and glutamatergic systems, cholinergic, dopaminergic, serotonergic, and oxytocin-related changes in autism, motor control and cognitive deficits, cerebellar coordination of movements and cognition, gene-environment interactions, therapeutics in autism, and relevant animal models of autism. Points of consensus include presence of abnormal cerebellar anatomy, abnormal neurotransmitter systems, oxidative stress, cerebellar motor and cognitive deficits, and neuroinflammation in subjects with autism. Undefined areas or areas requiring further investigation include lack of treatment options for core symptoms of autism, vermal hypoplasia, and other vermal abnormalities as a consistent feature of autism, mechanisms underlying cerebellar contributions to cognition, and unknown mechanisms underlying neuroinflammation.
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23. Fields C. {{Do autism spectrum disorders involve a generalized object categorization and identification dysfunction?}}. {Med Hypotheses}. 2012; 79(3): 344-51.
Experience-dependent learning of feature-based object categories, including entry-level categories such as « human being » and more specialized categories such as « family member », « pet » or « toy », is required to support correct object re-identification over time and hence to support social bonding, language learning, and the development of general life skills. It is hypothesized that activity imbalances between motion-analyzing and feature-analyzing components of the visuo-motor system resulting in hyper-activation of parahippocampal cortex relative to perirhinal cortex during the initial period of experience-dependent category learning in early infancy could lead to the construction of object categories dominated by trajectory information as opposed to feature information. It is shown that the deployment of trajectory-dominated object categories would disrupt normal object re-identification and produce developmental outcomes consistent with both the recognized symptoms and experimentally characterized cognitive-behavioral phenotypes of autism spectrum disorders. Further experiments to test the hypothesis and its potential clinical relevance are discussed.
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24. Flanagan JE, Landa R, Bhat A, Bauman M. {{Head lag in infants at risk for autism: a preliminary study}}. {Am J Occup Ther}. 2012; 66(5): 577-85.
OBJECTIVE.Poor postural control during pull-to-sit is a predictor of developmental disruption in cerebral palsy and preterm populations but has not been examined in infants at risk for autism. We examined the association between head lag during pull-to-sit at age 6 mo and autism risk status. METHOD.High-risk participants were siblings of children with autism. We studied one sample of 40 high-risk infants prospectively from 6-36 mo and obtained diagnostic classifications of autism or no autism. We conducted a subsequent between-group comparison with a new sample of 20 high-risk and 21 low-risk infants. RESULTS.Head lag was significantly associated with autism spectrum disorder at 36 mo (p = .020) and was more frequently observed in high-risk than in low-risk infants (p = .018). CONCLUSION.Head lag with other alterations in early development may be associated with autism risk and may serve as an early indicator of neurodevelopmental disruption. Results have clinical implications for occupational therapists in early intervention practice.
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25. Fletcher-Watson S, Leekam SR, Connolly B, Collis JM, Findlay JM, McConachie H, Rodgers J. {{Attenuation of change blindness in children with autism spectrum disorders}}. {Br J Dev Psychol}. 2012; 30(Pt 3): 446-58.
Change blindness refers to the difficulty most people find in detecting a difference between two pictures when these are presented successively, with a brief interruption between. Attention at the site of the change is required for detection. A number of studies have investigated change blindness in adults and children with autism spectrum disorders (ASD). Some have produced evidence that people with ASD find changes to social stimuli harder to detect and changes to non-social stimuli easier to detect, relative to comparison participants. However, other studies have produced entirely contradictory findings. There is a need for consistency in methodology to aid understanding of change blindness and attentional processes in ASD. Here, we replicate a change blindness study previously carried out with typically developing (TD) children and adults and with adults with ASD. Results reveal attenuated change blindness for non-social stimuli in children with ASD relative to TD norms. Our results are interpreted, alongside others’ findings, as potentially indicative of a complex relationship between different influences on attention over time.
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26. Foley AG, Gannon S, Rombach-Mullan N, Prendergast A, Barry C, Cassidy AW, Regan CM. {{Class I histone deacetylase inhibition ameliorates social cognition and cell adhesion molecule plasticity deficits in a rodent model of autism spectrum disorder}}. {Neuropharmacology}. 2012; 63(4): 750-60.
In utero exposure of rodents to valproic acid (VPA), a histone deacetylase (HDAC) inhibitor, has been proposed to induce an adult phenotype with behavioural characteristics reminiscent of those observed in autism spectrum disorder (ASD). We have evaluated the face validity of this model in terms of social cognition deficits which are a major core symptom of ASD. We employed the social approach avoidance paradigm as a measure of social reciprocity, detection of biological motion that is crucial to social interactions, and spatial learning as an indicator of dorsal stream processing of social cognition and found each parameter to be significantly impaired in Wistar rats with prior in utero exposure to VPA. We found no significant change in the expression of neural cell adhesion molecule polysialylation state (NCAM PSA), a measure of construct validity, but a complete inability to increase its glycosylation state which is necessary to mount the neuroplastic response associated with effective spatial learning. Finally, in all cases, we found chronic HDAC inhibition, with either pan-specific or HDAC1-3 isoform-specific inhibitors, to significantly ameliorate deficits in both social cognition and its associated neuroplastic response. We conclude that in utero exposure to VPA provides a robust animal model for the social cognitive deficits of ASD and a potential screen for the development of novel therapeutics for this condition.
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27. Freitag CM, Feineis-Matthews S, Valerian J, Teufel K, Wilker C. {{The Frankfurt early intervention program FFIP for preschool aged children with autism spectrum disorder: a pilot study}}. {J Neural Transm}. 2012; 119(9): 1011-21.
Different early intervention programs, developed predominantly in the US, for preschool aged children with autism spectrum disorders (ASD) have been published. Several systematic review articles including a German Health Technology Assessment on behavioural and skill-based early interventions in children with ASD reported insufficient evidence and a substantial problem of generalisability to the German context. In Germany, approx. 2-5 h early intervention is supported by social services. Here, we report the results of a 1 year pre-post pilot study on a developmentally based social pragmatic approach, the Frankfurt Early Intervention program FFIP. In FFIP, individual 2:1, behaviourally and developmentally based therapy with the child is combined with parent training and training of kindergarten teachers. Treatment frequency is 2 h/week. Outcome measures were the Vineland Adaptive Behaviour Scales II (VABS), mental age and the ADOS severity score. Improvements after 1 year were observed for the VABS socialisation scale and the mental age quotient/IQ (medium effect sizes). Results are comparable with several other studies with a similar or slightly higher therapeutic intensity implementing comparable or different early intervention methods or programs. Compared to most high-intensity programs (30-40 h/week), lower cognitive gains were observed. Results have to be replicated and assessed by a randomized-controlled study before any final conclusions can be drawn.
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28. Gandal MJ, Nesbitt AM, McCurdy RM, Alter MD. {{Measuring the maturity of the fast-spiking interneuron transcriptional program in autism, schizophrenia, and bipolar disorder}}. {PLoS One}. 2012; 7(8): e41215.
BACKGROUND: Emerging evidence suggests that fast-spiking (FS) interneurons are disrupted in multiple neuropsychiatric disorders including autism, schizophrenia, and bipolar disorder. FS cells, which are the primary source of synaptic inhibition, are critical for temporally organizing brain activity, regulating brain maturation, and modulating critical developmental periods in multiple cortical systems. Reduced expression of parvalbumin, a marker of mature FS cells, has been reported in individuals with schizophrenia and bipolar disorder and in mouse models of schizophrenia and autism. Although these results suggest that FS cells may be immature in neuropsychiatric disease, this possibility had not previously been formally assessed. METHODS: This study used time-course global expression data from developing FS cells to create a maturation index that tracked with the developmental age of purified cortical FS cells. The FS cell maturation index was then applied to global gene expression data from human cortex to estimate the maturity of the FS cell developmental program in the context of various disease states. Specificity of the index for FS cells was supported by a highly significant correlation of maturation index measurements with parvalbumin expression levels that withstood correction for multiple covariates. CONCLUSIONS: Results suggest the FS cell developmental gene expression program is immature in autism, schizophrenia, and bipolar disorder. More broadly, the current study indicates that cell-type specific maturation indices can be used to measure the maturity of developmental programs even in data from mixed cell types such as those found in brain homogenates.
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29. Gau SS, Liao HM, Hong CC, Chien WH, Chen CH. {{Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism}}. {Am J Med Genet B Neuropsychiatr Genet}. 2012; 159B(6): 710-7.
Autism is a childhood-onset neurodevelopmental disorder with complex genetic mechanism underlying its etiology. Recent studies revealed that a few single de novo copy number variants of genomic DNA (copy number variants [CNVs]) are pathogenic and causal in some sporadic cases, adding support to the hypothesis that some sporadic autism might be caused by single rare mutation with large clinical effect. In this study, we report the detection of two novel private CNVs simultaneously in a male patient with autism. These two CNVs include a microduplication of approximately 4.5 Mb at chromosome 4q12-13.1 that was transmitted from his mother and a microdeletion of approximately 1.8 Mb at 5q32 that was transmitted from his father. Several genes such as LPHN3, POU4F3, SH3RF2, and TCERG1 mapped to these two regions have psychiatric implications. However, the parents had only mild degree of attention deficit symptoms but did not demonstrate any obvious autistic symptoms or psychopathology. Our findings indicate that each of these two CNVs alone may not be pathogenic enough to cause clinical symptoms in their respective carriers, and hence they can be transmitted within each individual family. However, concomitant presence of these two CNVs might result in the clinical phenotypes of the affected patient reported here. Thus, our report of this family may represent an example to show that two hits of CNV and the presence of compound heterozygosity might be important mechanisms underlying the pathogenesis of autism. (c) 2012 Wiley Periodicals, Inc.
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30. Glatt SJ, Tsuang MT, Winn M, Chandler SD, Collins M, Lopez L, Weinfeld M, Carter C, Schork N, Pierce K, Courchesne E. {{Blood-based gene expression signatures of infants and toddlers with autism}}. {J Am Acad Child Adolesc Psychiatry}. 2012; 51(9): 934-44 e2.
OBJECTIVE: Autism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with autism have yet emerged. METHOD: Using a community-based, prospective, longitudinal method, we identified 60 infants and toddlers at risk for ASDs (autistic disorder and pervasive developmental disorder), 34 at-risk for language delay, 17 at-risk for global developmental delay, and 68 typically developing comparison children. Diagnoses were confirmed via longitudinal follow-up. Each child’s mRNA expression profile in peripheral blood mononuclear cells was determined by microarray. RESULTS: Potential ASD biomarkers were discovered in one-half of the sample and used to build a classifier, with high diagnostic accuracy in the remaining half of the sample. CONCLUSIONS: The mRNA expression abnormalities reliably observed in peripheral blood mononuclear cells, which are safely and easily assayed in infants, offer the first potential peripheral blood-based, early biomarker panel of risk for autism in infants and toddlers. Future work should verify these biomarkers and evaluate whether they may also serve as indirect indices of deviant molecular neural mechanisms in autism.
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31. Griffith GM, Totsika V, Nash S, Jones RS, Hastings RP. {{« We are all there silently coping. » The hidden experiences of parents of adults with Asperger syndrome*}}. {J Intellect Dev Disabil}. 2012; 37(3): 237-47.
Background The experiences of older parents of adults with Asperger syndrome have not been explored in the research literature. Method Four families who had middle-aged offspring with Asperger syndrome were interviewed (3 mothers and 1 couple), and the interviews were analysed using interpretative phenomenological analysis (IPA). Results Six themes emerged from the analysis: (a) providers of « hidden » support, (b) role of advocate, (c) social isolation, (d) intrafamilial relationships, (e) support for parents, and (f) future concerns. Conclusions The findings of this study offer insight into the experience of parents of adult sons with Asperger syndrome. Implications for future support interventions and research are suggested.
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32. Groen WB, Rommelse N, de Wit T, Zwiers MP, van Meerendonck D, van der Gaag RJ, Buitelaar JK. {{Visual scanning in very young children with autism and their unaffected parents}}. {Autism Res Treat}. 2012; 2012: 748467.
This study of gaze patterns in very young children with autism and their parents included 23 cases (with 16 fathers and 19 mothers) and 46 controls (with 14 fathers and 28 mothers). Children (mean age 3.3 +/- 1.5 years) with autism met DSM-IV and ADOS-G diagnostic criteria. The participants’ gaze patterns were recorded while they viewed four simple movies that did not feature people. In children, severity of autism is related to spending more time watching irrelevant regions in one of the four movies. The mothers of children with autism showed an atypical pattern for three movies, whereas the fathers of children with autism did not show an atypical gaze pattern. The gaze pattern of the mothers was positively correlated with that of their children. The atypical viewing pattern of autistic individuals appears not to be restricted to people and social situations but is also seen in other situations, suggesting that there is a perceptual broad autism phenotype.
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33. Gulhan Ercan-Sencicek A, Davis Wright NR, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Einar Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL. {{Searching for Potocki-Lupski syndrome phenotype: A patient with language impairment and no autism}}. {Brain Dev}. 2012; 34(8): 700-3.
Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism.
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34. Guo H, Xun G, Peng Y, Xiang X, Xiong Z, Zhang L, He Y, Xu X, Liu Y, Lu L, Long Z, Pan Q, Hu Z, Zhao J, Xia K. {{Disruption of Contactin 4 in two subjects with autism in Chinese population}}. {Gene}. 2012; 505(2): 201-5.
Autism is a heterogeneous childhood neurodevelopmental disorder that is characterised by deficits in verbal communication, impaired social interactions, restricted interests and repetitive behaviours. Using an Illumina HumanCNV370-Quad BeadChip, we identified two Han Chinese individuals with autism and large duplications (~1.6Mb and ~2.4Mb) disrupting the same CNTN4 gene. CNTN4 encodes a protein that functions as a cell-adhesion molecule and may play an essential role in the formation of axon connections in the developing nervous system. The disruption of this gene has been reported to be the cause of the 3p deletion syndrome and also a possible susceptibility factor for autism spectrum disorders (ASDs). Our results suggest that rare copy number variations (CNVs) in CNTN4 may also influence autism susceptibility in Asian populations. Interestingly, a comparison of the clinical phenotypes between the two subjects revealed that the subject with the 2.4Mb CNV (involving several other genes) presented with a more severe phenotype than the subject with the 1.6Mb CNV (disrupting only CNTN4 and CNTN6). This suggests that other genes in the nearby region may contribute to the pathogenesis.
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35. Gutman SA, Raphael-Greenfield EI, Rao AK. {{Effect of a motor-based role-play intervention on the social behaviors of adolescents with high-functioning autism: multiple-baseline single-subject design}}. {Am J Occup Ther}. 2012; 66(5): 529-37.
OBJECTIVE. We examined the effect of a motor-based role-play intervention on the social skills of adolescents with high-functioning autism. METHOD. An ABA multiple-baseline design with three 3-mo phases occurring over 12 mo was used with 7 participants. Frequency of targeted verbal and nonverbal behaviors was tallied in each phase. Frequency data were analyzed using repeated-measures analyses of variance with post hoc comparisons to examine differences in targeted behaviors over the three phases. RESULTS. Three participants completed all three study phases, 2 completed Phase 2, and 2 completed Phase 1. All participants (N = 7) demonstrated improved social skill use in Phase 1. Participants completing Phase 2 (n = 5) further improved social skill use. Additional improvements were observed among participants (n = 3) who completed Phase 3. CONCLUSION. The intervention helped participants improve targeted social skill use. Further testing with larger samples and intervention modifications is warranted.
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36. Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson C, Henriksen K, Hjalgrim H, Kirchhoff M, Bijlsma E, Nielsen M, den Hollander N, Ruivenkamp C, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. {{Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B}}. {Clin Genet}. 2012; 82(3): 248-55.
Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CAL, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid B-M, Andrieux J, Dieux A, Tommerup N, Bache I. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Corpus callosum abnormalities are common brain malformations with a wide clinical spectrum ranging from severe intellectual disability to normal cognitive function. The etiology is expected to be genetic in as much as 30-50% of the cases, but the underlying genetic cause remains unknown in the majority of cases. By next-generation mate-pair sequencing we mapped the chromosomal breakpoints of a patient with a de novo balanced translocation, t(1;6)(p31;q25), agenesis of corpus callosum (CC), intellectual disability, severe speech impairment, and autism. The chromosome 6 breakpoint truncated ARID1B which was also truncated in a recently published translocation patient with a similar phenotype. Quantitative polymerase chain reaction (Q-PCR) data showed that a primer set proximal to the translocation showed increased expression of ARID1B, whereas primer sets spanning or distal to the translocation showed decreased expression in the patient relative to a non-related control set. Phenotype-genotype comparison of the translocation patient to seven unpublished patients with various sized deletions encompassing ARID1B confirms that haploinsufficiency of ARID1B is associated with CC abnormalities, intellectual disability, severe speech impairment, and autism. Our findings emphasize that ARID1B is important in human brain development and function in general, and in the development of CC and in speech development in particular.
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37. Hazlett HC, Poe MD, Lightbody AA, Styner M, Macfall JR, Reiss AL, Piven J. {{Trajectories of early brain volume development in fragile x syndrome and autism}}. {J Am Acad Child Adolesc Psychiatry}. 2012; 51(9): 921-33.
OBJECTIVE: To examine patterns of early brain growth in young children with fragile X syndrome (FXS) compared with a comparison group (controls) and a group with idiopathic autism. METHOD: The study included 53 boys 18 to 42 months of age with FXS, 68 boys with idiopathic autism (autism spectrum disorder), and a comparison group of 50 typically developing and developmentally delayed controls. Structural brain volumes were examined using magnetic resonance imaging across two time points, at 2 to 3 and again at 4 to 5 years of age, and total brain volumes and regional (lobar) tissue volumes were examined. In addition, a selected group of subcortical structures implicated in the behavioral features of FXS (e.g., basal ganglia, hippocampus, amygdala) was studied. RESULTS: Children with FXS had larger global brain volumes compared with controls but were not different than children with idiopathic autism, and the rate of brain growth from 2 to 5 years of age paralleled that seen in controls. In contrast to children with idiopathic autism who had generalized cortical lobe enlargement, children with FXS showed specific enlargement in the temporal lobe white matter, cerebellar gray matter, and caudate nucleus, but a significantly smaller amygdala. CONCLUSIONS: This structural longitudinal magnetic resonance imaging study of preschoolers with FXS observed generalized brain overgrowth in children with FXS compared with controls, evident at age 2 and maintained across ages 4 to 5. In addition, different patterns of brain growth that distinguished boys with FXS from boys with idiopathic autism were found.
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38. Holwerda A, van der Klink JJ, Groothoff JW, Brouwer S. {{Predictors for work participation in individuals with an autism spectrum disorder: a systematic review}}. {J Occup Rehabil}. 2012; 22(3): 333-52.
Introduction Research shows that only about 25% of people with autism are employed. Method We conducted a systematic review on factors facilitating or hindering work participation of people with autism in longitudinal studies. An extensive search in biomedical and psychological databases yielded 204 articles and 18 satisfied all inclusion criteria. We assessed the methodological quality of included studies using an established criteria list. Results Seventeen factors were identified and categorized as disease-related factors, personal factors or external factors. Limited cognitive ability was the only significant predictor consistently found for work outcome. Functional independence and institutionalization were both reported by one study to be significantly related to work outcome. Inconsistent findings or non significant findings were reported for the other fourteen factors. Conclusion These findings emphasize the need for more high quality cohort studies focussing on work participation as the main outcome among people with Autism.
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39. Ipser JC, Syal S, Bentley J, Adnams CM, Steyn B, Stein DJ. {{1H-MRS in autism spectrum disorders: a systematic meta-analysis}}. {Metab Brain Dis}. 2012; 27(3): 275-87.
We conducted a systematic review and meta-analysis of proton magnetic resonance spectroscopy (1H-MRS) studies comparing autism spectrum disorder (ASD) patients with healthy controls, with the aim of profiling ASD-associated changes in the metabolites N-acetyl-aspartate (NAA) and Creatine (Cr). Meta-regression models of NAA and Cr levels were employed, using data from 20 eligible studies (N = 852), to investigate age-dependent differences in both global brain and region-specific metabolite levels, while controlling for measurement method (Cr-ratio versus absolute concentrations). Decreased NAA concentrations that were specific to children were found for whole-brain grey and white matter. In addition, a significant decrease in NAA was evident across age categories in the parietal cortex, the cerebellum, and the anterior cingulate cortex. Higher levels of Cr were observed for ASD adults than children in global grey matter, with specific increases for adults in the temporal lobe and decreased Cr in the occipital lobe in children. No differences were found for either NAA or Cr in the frontal lobes. These data provide some evidence that ASD is characterized by age-dependent fluctuations in metabolite levels across the whole brain and at the level of specific regions thought to underlie ASD-associated behavioural and affective deficits. Differences in Cr as a function of age and brain region suggests caution in the interpretation of Cr-based ratio measures of metabolites. Despite efforts to control for sources of heterogeneity, considerable variability in metabolite levels was observed in frontal and temporal regions, warranting further investigation.
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40. Kadar M, McDonald R, Lentin P. {{Evidence-based practice in occupational therapy services for children with autism spectrum disorders in Victoria, Australia}}. {Aust Occup Ther J}. 2012; 59(4): 284-93.
BACKGROUND: The current practice of occupational therapy services provided for children with autism spectrum disorders in Victoria, Australia was investigated – specifically, practice in terms of the theories, assessments and intervention strategies utilised. Identification of professional development needs was also explored. The purpose was to identify how occupational therapy practice may have changed over the last decade and to explore what additional developments are required in the field. METHOD: A self-administered survey was mailed to 322 registered members of Occupational Therapy Australia Limited, Victoria Branch. RESULTS: A valid response rate of 20.5% was obtained. The majority of the participants worked in private practice, and had between one and five years of work experience. Theories, assessments and interventions that are associated with or based on, sensory integration and/or processing approaches are highly utilised by the participants in their service delivery with children with autism spectrum disorders. Participants indicated that they felt they needed training and courses around sensory integration. CONCLUSIONS: We concluded that there were few changes in occupational therapy practice related to the selection of theoretical models, assessments and interventions by the participants in this study over the last decade. It is essential for occupational therapists not to neglect the goals of providing occupation-based interventions to children with autism spectrum disorders by focusing only on sensory-based approaches. An urgent need for occupation-based approaches to working with children with autism spectrum disorders and their families is required.
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41. Kao YC, Kramer JM, Liljenquist K, Tian F, Coster WJ. {{Comparing the functional performance of children and yo
