1. Bartlett CW, Hou L, Flax JF, Hare A, Cheong SY, Fermano Z, Zimmerman-Bier B, Cartwright C, Azaro MA, Buyske S, Brzustowicz LM. {{A Genome Scan for Loci Shared by Autism Spectrum Disorder and Language Impairment}}. {Am J Psychiatry}. 2013.
OBJECTIVE The authors conducted a genetic linkage study of families that have both autism spectrum disorder (ASD) and language-impaired probands to find common communication impairment loci. The hypothesis was that these families have a high genetic loading for impairments in language ability, thus influencing the language and communication deficits of the family members with ASD. Comprehensive behavioral phenotyping of the families also enabled linkage analysis of quantitative measures, including normal, subclinical, and disordered variation in all family members for the three general autism symptom domains: social, communication, and compulsive behaviors. METHOD The primary linkage analysis coded persons with either ASD or specific language impairment as « affected. » The secondary linkage analysis consisted of quantitative metrics of autism-associated behaviors capturing normal to clinically severe variation, measured in all family members. RESULTS Linkage to language phenotypes was established at two novel chromosomal loci, 15q23-26 and 16p12. The secondary analysis of normal and disordered quantitative variation in social and compulsive behaviors established linkage to two loci for social behaviors (at 14q and 15q) and one locus for repetitive behaviors (at 13q). CONCLUSION These data indicate shared etiology of ASD and specific language impairment at two novel loci. Additionally, nonlanguage phenotypes based on social aloofness and rigid personality traits showed compelling evidence for linkage in this study group. Further genetic mapping is warranted at these loci.
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2. Bilder DA, Bakian AV, Viskochil J, Clark EA, Botts EL, Smith KR, Pimentel R, McMahon WM, Coon H. {{Maternal Prenatal Weight Gain and Autism Spectrum Disorders}}. {Pediatrics}. 2013.
BACKGROUND:The rising population of individuals identified with an autism spectrum disorder (ASD) calls for further investigation of its underlying etiology. A disturbance in the fetal steroid hormone environment may be a mechanism in which environmental and genetic risk factors interact. The mother, fetus, and placenta collectively create the fetal steroid environment. Prepregnancy BMI and pregnancy weight gain have served as markers for fetal steroid hormone exposure in other disease states. This study’s objective is to determine whether prepregnancy BMI and pregnancy weight gain are associated with increased ASD risk across study designs and cohorts while controlling for important confounding variables.METHODS:A population-based Utah ASD cohort (n = 128) was ascertained in a 3-county surveillance area and gender- and age-matched to 10 920 control subjects. A second, research-based ASD cohort of Utah children (n = 288) and their unaffected siblings (n = 493) were ascertained through participation in an ASD genetics study. Prenatal variables were obtained from birth certificate records.RESULTS:ASD risk was significantly associated with pregnancy weight gain (adjusted odds ratio = 1.10, 95% confidence interval: 1.03 to 1.17; adjusted odds ratio = 1.17, 95% confidence interval: 1.01 to 1.35 for each 5 pounds of weight gained), but not prepregnancy BMI, in population and research-based cohorts, respectively. When analyses were restricted to ASD cases with normal IQ, these associations remained significant.CONCLUSIONS:ASD risk associated with a modest yet consistent increase in pregnancy weight gain suggests that pregnancy weight gain may serve as an important marker for autism’s underlying gestational etiology. This justifies an investigation into phenomena that link pregnancy weight gain and ASD independent of prepregnancy BMI.
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3. Brentani H, Paula CS, Bordini D, Rolim D, Sato F, Portolese J, Pacifico MC, McCracken JT. {{Autism spectrum disorders: an overview on diagnosis and treatment}}. {Rev Bras Psiquiatr}. 2013; 35 Suppl 1: S62-72.
Pervasive developmental disorders are now commonly referred to as autism spectrum disorders (ASDs). ASDs present with a range of severity and impairments, and often are a cause of severe disability, representing a major public health concern. The diagnostic criteria require delays or abnormal functioning in social interaction, language, and/or imaginative play within the first 3 years of life, resulting in a deviation from the developmental pattern expected for the age. Because establishing a diagnosis of ASD is possible as early as 18-24 months of age, clinicians should strive to identify and begin intervention in children with ASD as soon as signs are manifest. Increasing efforts are underway to make ASD screening universal in pediatric healthcare. Given the crucial importance of early identification and multiple modalities of treatment for ASD, this review will summarize the diagnostic criteria, key areas for assessment by clinicians, specific scales and instruments for assessment, and discussion of evidence-based treatment programs and the role of specific drug therapies for symptom management.
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4. Dierker DL, Feczko E, Pruett JR, Jr., Petersen SE, Schlaggar BL, Constantino JN, Harwell JW, Coalson TS, Van Essen DC. {{Analysis of Cortical Shape in Children with Simplex Autism}}. {Cereb Cortex}. 2013.
We used surface-based morphometry to test for differences in cortical shape between children with simplex autism (n = 34, mean age 11.4 years) and typical children (n = 32, mean age 11.3 years). This entailed testing for group differences in sulcal depth and in 3D coordinates after registering cortical midthickness surfaces to an atlas target using 2 independent registration methods. We identified bilateral differences in sulcal depth in restricted portions of the anterior-insula and frontal-operculum (aI/fO) and in the temporoparietal junction (TPJ). The aI/fO depth differences are associated with and likely to be caused by a shape difference in the inferior frontal gyrus in children with simplex autism. Comparisons of average midthickness surfaces of children with simplex autism and those of typical children suggest that the significant sulcal depth differences represent local peaks in a larger pattern of regional differences that are below statistical significance when using coordinate-based analysis methods. Cortical regions that are statistically significant before correction for multiple measures are peaks of more extended, albeit subtle regional differences that may guide hypothesis generation for studies using other imaging modalities.
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5. Ghanizadeh A. {{Increased Glutamate and Homocysteine and Decreased Glutamine Levels in Autism: A Review and Strategies for Future Studies of Amino Acids in Autism}}. {Dis Markers}. 2013; 35(5): 281-6.
There are many reports about the significant roles of some amino acids in neurobiology and treatment of autism. This is a critical review of amino acids levels in autism. No published review article about the level of amino acids in autism was found. The levels of glutamate and homocystein are increased in autism while the levels of glutamine and tryptophan are decreased. Findings regarding the plasma levels of taurine and lysine are controversial. The urinary levels of homocysteine and essential amino acids in both the untreated and treated autistic children are significantly less than those in the controls. The current literature suffers from many methodological shortcomings which needed to be considered in future studies. Some of them are age, gender, developmental level, autism symptoms severity, type of autism spectrum disorders, medical comorbidities, intelligent quotient, diet, concomitant medications, body mass index, and technical method of assessment of amino acids.
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6. Hermann I, Haser V, van Elst LT, Ebert D, Muller-Feldmeth D, Riedel A, Konieczny L. {{Automatic metaphor processing in adults with Asperger syndrome: a metaphor interference effect task}}. {Eur Arch Psychiatry Clin Neurosci}. 2013; 263 Suppl 2: 177-87.
This paper investigates automatic processing of novel metaphors in adults with Asperger Syndrome (AS) and typically developing controls. We present an experiment combining a semantic judgment task and a recognition task. Four types of sentences were compared: Literally true high-typical sentences, literally true low-typical sentences, apt metaphors, and scrambled metaphors (literally false sentences which are not readily interpretable as metaphors). Participants were asked to make rapid decisions about the literal truth of such sentences. The results revealed that AS and control participants showed significantly slower RTs for metaphors than for scrambled metaphors and made more mistakes in apt metaphoric sentences than in scrambled metaphors. At the same time, there was higher recognition of apt metaphors compared with scrambled metaphors. The findings indicate intact automatic metaphor processing in AS and replicate previous findings on automatic metaphor processing in typically developing individuals.
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7. Kaat AJ, Lecavalier L, Aman MG. {{Validity of the Aberrant Behavior Checklist in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2013.
The Aberrant Behavior Checklist (ABC) is a widely used measure in autism spectrum disorder (ASD) treatment studies. We conducted confirmatory and exploratory factor analyses of the ABC in 1,893 children evaluated as part of the Autism Treatment Network. The root mean square error of approximation was .086 for the standard item assignment, and in exploratory factor analysis, the large majority of items continued to load on the originally assigned factors. Correlations between the ABC subscales and multiple external variables including the Child Behavior Checklist and demographic variables supported the convergent and divergent validity of the ABC as a measure of behavior problems in ASD. Finally, we examined the impact of participant characteristics on subscale scores and present normative data.
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8. Kohane IS, Eran A. {{Can we measure autism?}}. {Sci Transl Med}. 2013; 5(209): 209ed18.
Newly released definitions of autism spectrum disorder demonstrate the need for precise diagnoses informed by the integration of clinical, molecular, and biochemical characteristics in a patient-information commons.
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9. Lee TY, Lin FY. {{Taiwanese parents’ perceptions of their very low-birth-weight infant with developmental disabilities}}. {J Perinat Neonatal Nurs}. 2013; 27(4): 345-52.
This study explores the perceptions and experiences of Taiwanese parents in coping with the unfolding evidence of a disability, their response to the official diagnosis, and their views about their child’s developmental disability. This descriptive qualitative study is a partial analysis of data from a larger study including 19 Taiwanese parents of very low-birth-weight infants with developmental disability at 6 and 12 months of corrected age. Four themes were generated: uncertainty and worry about developmental progress, search for meaning and supernatural will, desire for normality and attitude toward services, and finding a balance point in family life and relationships. The parents of very low-birth-weight infants face uncertainty about developmental and other potential problems in the infant’s early age. Adequate information related to infant development needs to be integrated into follow-up clinic and early intervention services. Early intervention programs should not only focus on the needs of these infants but also provide support and care to the whole family. Understanding parental beliefs and values toward developmental disabilities can help neonatal and pediatric professionals to provide optimal early intervention to these families.
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10. Ruissen A, Godschalx-Dekker JA. {{[Reaction on ‘An adolescent with autism and a somatic high-risk profile receiving treatment with antipsychotics refuses blood tests’]}}. {Tijdschr Psychiatr}. 2013; 55(10): 811-3.
11. Schubart JR, Camacho F, Leslie D. {{Psychotropic medication trends among children and adolescents with autism spectrum disorder in the Medicaid program}}. {Autism}. 2013.
This study characterized psychotropic medication use among Medicaid-enrolled children and adolescents with autism spectrum disorders by examining trends over time, including length of treatment and polypharmacy using 4 years of administrative claims data from 41 state Medicaid programs (2000-2003). The data set included nearly 3 million children and adolescents who were 17 years or younger. Approximately, 65% of children with autism spectrum disorder received a psychotropic medication. The results indicate an increasing overall trend in the use of psychotropic drugs among children and adolescents with autism spectrum disorders. Among the different classes of psychotropic drugs, antipsychotics were the most common. Increasing trends in polypharmacy were observed both within and between medication classes.
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12. Shin CJ, Saeed S. {{Toothbrushing barriers for people with developmental disabilities: a pilot study}}. {Spec Care Dentist}. 2013; 33(6): 269-74.
PURPOSE: The aims of this study were: (1) to determine which step in tooth brushing is most difficult for individuals with developmental disabilities and (2) to determine if oral hygiene instruction improves technique. MATERIAL AND METHODS: Once per week for 6 weeks, disclosing solution was applied to the teeth of 14 subjects who were observed individually in their tooth brushing technique. Fourteen distinct steps were measured on a 4-point Likert scale. Plaque score was measured after brushing. RESULTS: The step causing greatest difficulty was « able to brush off residual, identified plaque. » Steps that showed greatest improvement were « open toothpaste » and « place toothpaste on brush. » The change in plaque score from the initial visit to the final visit was not statistically significant. CONCLUSION: Oral hygiene instruction in a group and individual setting increased compliance in the initial steps of tooth brushing.
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13. Sukhodolsky DG, Bloch MH, Panza KE, Reichow B. {{Cognitive-Behavioral Therapy for Anxiety in Children With High-Functioning Autism: A Meta-analysis}}. {Pediatrics}. 2013.
BACKGROUND: Anxiety is a common and impairing problem in children and adolescents with autism spectrum disorder (ASD). There is emerging evidence that cognitive-behavioral therapy (CBT) could reduce anxiety in children with high-functioning ASD.OBJECTIVE:To systematically review the evidence of using CBT to treat anxiety in children and adolescents with ASD. Methods for this review were registered with PROSPERO (CRD42012002722).METHODS:We included randomized controlled trials published in English in peer-reviewed journals comparing CBT with another treatment, no treatment control, or waitlist control. Two authors independently screened 396 records obtained from database searches and hand searched relevant journals. Two authors independently extracted and reconciled all data used in analyses from study reports.RESULTS:Eight studies involving 469 participants (252 treatment, 217 comparison) met our inclusion criteria and were included in meta-analyses. Overall effect sizes for clinician- and parent-rated outcome measures of anxiety across all studies were d = 1.19 and d = 1.21, respectively. Five studies that included child self-report yielded an average d = 0.68 across self-reported anxiety.CONCLUSIONS:Parent ratings and clinician ratings of anxiety are sensitive to detecting treatment change with CBT for anxiety relative to waitlist and treatment-as-usual control conditions in children with high-functioning ASD. Clinical studies are needed to evaluate CBT for anxiety against attention control conditions in samples of children with ASD that are well characterized with regard to ASD diagnosis and co-occurring anxiety symptoms.
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14. Tebartz van Elst L, Pick M, Biscaldi M, Fangmeier T, Riedel A. {{High-functioning autism spectrum disorder as a basic disorder in adult psychiatry and psychotherapy: psychopathological presentation, clinical relevance and therapeutic concepts}}. {Eur Arch Psychiatry Clin Neurosci}. 2013; 263 Suppl 2: 189-96.
Autism spectrum disorder (ASD) is characterized by deficits in social cognition and competence, communication, highly circumscribed interests and a strong desire for routines. Besides, there are specific abnormalities in perception and language. Typical symptoms are already present in early childhood. Traditionally autism has been regarded as a severe form of neurodevelopmental disorder which goes along with overtly abnormal language, learning difficulties and low IQ in the majority of cases. However, over the last decades, it has become clear that there are also many patients with high-functioning variants of ASD. These are patients with normal language at a superficial level of description and normal and sometimes above average intelligence. In high-functioning variants of the disease, they may run unrecognized until late in adult life. High-functioning ASD is associated with a very high prevalence of comorbid classical psychiatric disorders such as depression, anxiety, ADHD, tics, psychotic symptoms or emotionally unstable syndromes. In many such cases, there is a causal relationship between ASD and the comorbid psychiatric conditions in that the specific ASD symptoms result in chronic conflicts, misunderstandings and failure in private and vocational relationships. These problems in turn often lead to depression, anxiety and sometimes psychosis-like stress reactions. In this constellation, ASD has to be regarded as a basic disorder with causal relevance for secondary psychiatric syndromes. In this paper, we summarize the classical presentation of high-functioning ASD in adult psychiatry and psychotherapy and suggest a nosological model to classify different ASD conditions instead. To conclude, we outline first treatment concepts in out- and in-patient settings.
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15. Viscidi EW, Johnson AL, Spence SJ, Buka SL, Morrow EM, Triche EW. {{The association between epilepsy and autism symptoms and maladaptive behaviors in children with autism spectrum disorder}}. {Autism}. 2013.
Epilepsy is common in children with autism spectrum disorder (ASD) but little is known about how seizures impact the autism phenotype. The association between epilepsy and autism symptoms and associated maladaptive behaviors was examined in 2,645 children with ASD, of whom 139 had epilepsy, from the Simons Simplex Collection. Children with ASD and epilepsy had significantly more autism symptoms and maladaptive behaviors than children without epilepsy. However, after adjusting for IQ, only hyperactivity symptoms remained significantly increased (13% higher) in the epilepsy group. Among children with ASD without co-occurring intellectual disability, children with epilepsy had significantly more irritability (20% higher) and hyperactivity (24% higher) symptoms. This is the largest study to date comparing the autism phenotype in children with ASD with and without epilepsy. Children with ASD and epilepsy showed greater impairment than children without epilepsy, which was mostly explained by the lower IQ of the epilepsy group. These findings have important clinical implications for patients with ASD.
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16. Voineagu I, Yoo HJ. {{Current Progress and Challenges in the Search for Autism Biomarkers}}. {Dis Markers}. 2013; 35(1): 55-65.
Autism spectrum disorders (ASD) encompass a range of neurodevelopmental conditions that are clinically and etiologically very heterogeneous. ASD is currently diagnosed entirely on behavioral criteria, but intensive research efforts are focused on identifying biological markers for disease risk and early diagnosis. Here, we discuss recent progress toward identifying biological markers for ASD and highlight specific challenges as well as ethical aspects of translating ASD biomarker research into the clinic.
