1. Carbonetto S. {{A Blueprint for Research on Shankopathies: A view from research on Autism Spectrum Disorder}}. {Dev Neurobiol};2013 (Nov 12)
Autism Spectrum Disorders (ASD) are associated with mutations in a host of genes including a number that function in synaptic transmission. Phelan McDermid Syndrome involves mutations in SHANK3 which encodes a protein that forms a scaffold for glutamate receptors at the synapse. SHANK3 is one of the genes underpins the synaptic hypothesis for ASD. We discuss this hypothesis with a view to the broader context of ASD and with special emphasis on highly penetrant genetic disorders including Shankopathies. We propose a blueprint for near and longer-term goals for fundamental and translational research on Shankopathies. (c) 2013 Wiley Periodicals, Inc. Develop Neurobiol, 2013.
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2. Cridland EK, Jones SC, Caputi P, Magee CA. {{Being a Girl in a Boys’ World: Investigating the Experiences of Girls with Autism Spectrum Disorders During Adolescence}}. {J Autism Dev Disord};2013 (Nov 13)
This study investigates the experiences of adolescent girls with autism spectrum disorders (ASD) during adolescence. Semi-structured interviews were conducted with three mother-daughter dyads and two additional mothers. A range of issues were highlighted covering physical, emotional, social and sexual domains. Some of these issues were similar to those experienced by boys with ASD during adolescence, such as negative implications of late diagnosis, challenges of transitioning to and coping with high school, ‘hands-on’ role of parents into adolescence, difficulties adjusting to the increased demands of adolescent hygiene routines, and the importance of learning personal boundaries in interactions with others. Other issues discussed were of particular relevance to adolescent girls with ASD, such as difficulties socialising with neurotypically developing girls, sex-specific puberty issues, and sexual vulnerabilities. This study highlights an important research area and is a preliminary step towards understanding the experiences of adolescent girls with ASD and their families.
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3. El Zein F, Solis M, Vaughn S, McCulley L. {{Reading Comprehension Interventions for Students with Autism Spectrum Disorders: A Synthesis of Research}}. {J Autism Dev Disord};2013 (Nov 12)
The authors synthesized reading intervention studies conducted between 1980 and 2012 with K-12 students identified with autism spectrum disorders (ASD). Nine single-subject design studies, one quasi-experimental study, and two single-group design studies met the criteria for inclusion. Findings from the studies indicate that modifying instructional interventions associated with improved comprehension for students with reading difficulties may improve reading comprehension in students with ASD. Four studies implemented strategy instruction that included (a) question generation; (b) graphic organizers; and (c) making predictions. Two studies utilized anaphoric cueing instruction, three implemented explicit instruction, and three examined student grouping practices. Among the reviewed studies, the majority (n = 9) measured reading comprehension through researcher-developed probes, and two studies reported results from standardized measures.
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4. Feinberg E, Augustyn M, Fitzgerald E, Sandler J, Ferreira-Cesar Suarez Z, Chen N, Cabral H, Beardslee W, Silverstein M. {{Improving Maternal Mental Health After a Child’s Diagnosis of Autism Spectrum Disorder: Results From a Randomized Clinical Trial}}. {JAMA Pediatr};2013 (Nov 11)
IMPORTANCE The prevalence of psychological distress among mothers of children with autism spectrum disorder (ASD) suggests a need for interventions that address parental mental health during the critical period after the child’s autism diagnosis when parents are learning to navigate the complex system of autism services. OBJECTIVE To investigate whether a brief cognitive behavioral intervention, problem-solving education (PSE), decreases parenting stress and maternal depressive symptoms during the period immediately following a child’s diagnosis of ASD. DESIGN, SETTING, AND PARTICIPANTS A randomized clinical trial compared 6 sessions of PSE with usual care. Settings included an autism clinic and 6 community-based early intervention programs that primarily serve low-income families. Participants were mothers of 122 young children (mean age, 34 months) who recently received a diagnosis of ASD. Among mothers assessed for eligibility, 17.0% declined participation. We report outcomes after 3 months of follow-up (immediate postdiagnosis period). INTERVENTIONS Problem-solving education is a brief, cognitive intervention delivered in six 30-minute individualized sessions by existing staff (early intervention programs) or research staff without formal mental health training (autism clinic). MAIN OUTCOMES AND MEASURES Primary outcomes were parental stress and maternal depressive symptoms. RESULTS Fifty-nine mothers were randomized to receive PSE and 63 to receive usual care. The follow-up rate was 91.0%. Most intervention mothers (78.0%) received the full PSE course. At the 3-month follow-up assessment, PSE mothers were significantly less likely than those serving as controls to have clinically significant parental stress (3.8% vs 29.3%; adjusted relative risk [aRR], 0.17; 95% CI, 0.04 to 0.65). For depressive symptoms, the risk reduction in clinically significant symptoms did not reach statistical significance (5.7% vs 22.4%; aRR, 0.33; 95% CI, 0.10 to 1.08); however, the reduction in mean depressive symptoms was statistically significant (Quick Inventory of Depressive Symptomatology score, 4.6 with PSE vs 6.9 with usual care; adjusted mean difference, -1.67; 95% CI, -3.17 to -0.18). CONCLUSIONS AND RELEVANCE The positive effects of PSE in reducing parenting stress and depressive symptoms during the critical postdiagnosis period, when parents are asked to navigate a complex service delivery system, suggest that it may have a place in clinical practice. Further work will monitor these families for a total of 9 months to determine the trajectory of outcomes. TRIAL REGISTRATION clinicaltrials.gov Identifier: NCT01021384.
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5. Fine JG, Musielak KA, Semrud-Clikeman M. {{Smaller splenium in children with nonverbal learning disability compared to controls, high-functioning autism and ADHD}}. {Child Neuropsychol};2013 (Nov 12)
The current study investigated morphological differences in the corpus callosum in children ages 8 to 18 years old with nonverbal learning disability (NLD; n = 19), high-functioning autism (HFA; n = 23), predominantly inattentive ADHD (ADHD:PI; n = 23), and combined type ADHD (ADHD:C; n = 25), as well as those demonstrating typical development (n = 57). Midsagittal area of the corpus callosum and five midsagittal anterior-to-posterior corpus callosum segments were examined using magnetic resonance imaging. Controlling for midsagittal brain area and age, no group differences were found for total corpus callosum area. This finding indicates that higher functioning children on the autistic spectrum do not have smaller corpus callosi as has been found in previous research with heterogeneous samples. Following segmentation of the corpus callosum, the NLD group was observed to have significantly smaller splenia compared to all other groups. Smaller splenia in the NLD group was associated with lower WASI PIQ scores but not WASI VIQ scores. Children with HFA were observed to have larger midbody areas than children with NLD and neurotypically developing children. Children with HFA and NLD demonstrated behavioral symptoms of inattention and hyperactivity similar to the ADHD groups indicating that corpus callosum differences seen in the NLD and HFA groups are not related to these behaviors.
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6. Hartley SL, Schaidle EM, Burnson CF. {{Parental Attributions for the Behavior Problems of Children and Adolescents With Autism Spectrum Disorders}}. {J Dev Behav Pediatr};2013 (Nov 8)
OBJECTIVE:: The authors examined parental attributions for child behavior problems in 63 married couples of children and adolescents (aged 3-20 years) with autism spectrum disorders (ASDs). Both child-referent attributions (i.e., beliefs about causes related to the child or adolescent) and parent-referent attributions (i.e., beliefs about causes related to the parent) were examined along the dimensions of locus, stability, and controllability. Parent and child/adolescent factors related to parental attributions were identified, and the associations between parental attributions and parenting burden were explored. METHOD:: Mothers and fathers independently completed self-reported measures of parental attributions, parenting burden, and child behavior problems. Couples jointly reported on their son or daughter’s severity of autism symptoms, intellectual disability status, age, and gender. RESULTS:: Parents tended to attribute the behavior problems of their child/adolescent with an ASD to characteristics that were not only internal to and stable in the child/adolescent but also controllable by the child/adolescent. Mothers were more likely to attribute their son or daughter’s behavior problems to characteristics that were less internal to and less stable in the child/adolescent with an ASD than were fathers. In addition, parents with a higher level of symptoms of the broader autism phenotype, parents of younger children, and parents of children/adolescents with intellectual disability, a higher severity of autism symptoms, and a higher severity of overall behavior problems were more likely to attribute their son or daughter’s behavior problems to characteristics that were more internal to and stable in the child/adolescent and factors that were less controllable by the child/adolescent. Parental attributions were related to parents’ level of parenting burden. IMPLICATIONS:: Findings have implications for designing appropriate interventions and services for families of children and adolescents with ASDs.
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7. Herlihy L, Knoch K, Vibert B, Fein D. {{Parents’ first concerns about toddlers with autism spectrum disorder: Effect of sibling status}}. {Autism};2013 (Nov 11)
Symptoms of autism spectrum disorders may appear as early as 6 months, but parent concern, which can precipitate evaluation, often lags significantly. The presence of typical or atypical older siblings can change parents’ sensitivity to departures from typical development. This study investigated type and age of parent’s first concerns in toddlers with autism spectrum disorder, prior to diagnosis. Participants had (1) at least one older sibling with autism spectrum disorder (Sibs-ASD); (2) only typically developing older siblings (Sibs-TD), or (3) were only/oldest (No-Sibs). Specific autism spectrum disorder diagnoses and symptom severity were similar among groups. Developmentally, No-Sibs showed the largest delays, followed by Sibs-TD, followed by Sibs-ASD. Mean age of first concern was 16 months for No-Sibs, 14 months for Sibs-TD, and 10 months for Sibs-ASD. Age of first concern differed significantly by group, even after controlling for mother’s age and education. Concern about language was prevalent in all groups. Thus, the presence of an older child with typical or, especially, atypical development was associated with earlier concerns for the affected child, despite milder developmental delays. These findings underscore the importance of encouraging parents to report concerns to pediatricians, routine standardized screening for autism spectrum disorder, and the need for pediatrician vigilance, especially for only or oldest children.
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8. Kao FC, Su SH, Carlson GC, Liao W. {{MeCP2-mediated alterations of striatal features accompany psychomotor deficits in a mouse model of Rett syndrome}}. {Brain Struct Funct};2013 (Nov 12)
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Affected individuals develop motor deficits including stereotypic hand movements, impaired motor learning and difficulties with movement. To understand the neural mechanisms of motor deficits in RTT, we characterized the molecular and cellular phenotypes in the striatum, the major input nucleus of the basal ganglia that controls psychomotor function, in mice carrying a null allele of Mecp2. These mice showed significant hypoactivity associated with impaired motor coordination and motor skill learning. We found that dopamine content was significantly reduced in the striatum of Mecp2 null mice. Reduced dopamine was accompanied by down-regulation of tyrosine hydroxylase and up-regulation of dopamine D2 receptors, particularly in the rostral striatum. We also observed that loss of MeCP2 induced compartment-specific alterations in the striatum, including reduced expression of mu-opioid receptors in the striosomes and increased number of calbindin-positive neurons in the striatal matrix. The total number of parvalbumin-positive interneurons and their dendritic arborization were also significantly increased in the striatum of Mecp2 null mice. Together, our findings support that MeCP2 regulates a unique set of genes critical for modulating motor output of the striatum, and that aberrant structure and function of the striatum due to MeCP2 deficiency may underlie the motor deficits in RTT.
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9. Phelps R, Nickel R, Eisert D, Stein MT. {{Parental Influence on a Child’s Autistic Traits}}. {J Dev Behav Pediatr};2013 (Nov 8)
CASE: Robbie is a 4-year-old boy whose parents are concerned about his speech, social skills, and repetitive behaviors. He has poor articulation; at time, he is difficult to understand. On the other hand, he has a fair vocabulary, and he has good intent to communicate. He is generally able to communicate his needs and wants. He likes to tell his parents about his day.When he begins the day at preschool, Robbie initially stands by himself and watches. He slowly warms up and eventually participates in activities. He engages in parallel play or follows other children. He knows names of children at preschool, and he is well liked. He is affectionate with his parents.When Robbie is excited, he wiggles his fingers, flaps his arms, and grimaces. He can be quite rigid; for example, he gets very distressed when his mother sets his cup down on his right side instead of his left. However, in general, Robbie has a sunny personality. He likes to watch children’s television shows. He pretends plays with action figures. Robbie is an only child who lives with both parents. His mother works full-time, and his father is in home with Robbie during the day.When examined in the office, Robbie had a bright affect, good eye contact, and social referencing. He demonstrated good communicative intent, but poor articulation and some jargoning. He frequently wiggled his fingers and flapped his hands with excitement. Robbie had a borderline score on the Autism Diagnostic Observation Schedule.During the visit, the pediatrician noted that Robbie’s father was rather quiet and rarely responded to questions. When he did respond, he had a monotone quality to his voice. He maintained either a flat or nervous affect throughout the visit. He made limited eye contact, and occasionally he stared excessively.
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10. Rada RE. {{Dental erosion due to GERD in patients with developmental disabilities: case theory}}. {Spec Care Dentist};2013 (Nov 12)
Gastroesophageal reflux disease (GERD) is a common finding among individuals in our society. Unfortunately, the condition is even more prevalent in individuals with developmental disabilities. There are significant comorbidities that can affect the upper gastrointestinal tract. Erosion of tooth surfaces may be the first comorbidity that is detected in individuals unable to express physical discomfort associated with GERD. The dentist should be aware of these findings and able to refer the patient for medical management. In addition, an awareness of preventive regimens and restorative options is essential in maintaining a healthy dentition for these individuals.
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11. Richard AE, Lajiness-O’Neill RR, Bowyer SM. {{Impaired prefrontal gamma band synchrony in autism spectrum disorders during gaze cueing}}. {Neuroreport};2013 (Nov 13);24(16):894-897.
Orienting to eye gaze is a vital social skill that is absent or developmentally delayed in autism spectrum disorders (ASD). Neural synchrony in the gamma frequency band is believed to be involved in perceptual and cognitive functions such as eye-gaze processing, and has been found to be abnormal in ASD. The current study used magnetoencephalography to measure neural synchrony in the gamma frequency band in neurotypicals (n=8) and individuals with ASD (n=10) while performing a directional eye-gaze processing task. Results support impaired generation of neural synchrony in the gamma frequency band during eye-gaze processing in ASD. Impaired gamma oscillatory activity in the prefrontal cortex may be associated with impairments in social cognitive functions such as eye-gaze processing in ASD.
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12. Ruiz-Robledillo N, Moya-Albiol L. {{Lower Electrodermal Activity to Acute Stress in Caregivers of People with Autism Spectrum Disorder: An Adaptive Habituation to Stress}}. {J Autism Dev Disord};2013 (Nov 13)
Caring for a relative with autism spectrum disorder (ASD) entails being under chronic stress that could alter body homeostasis. Electrodermal activity (EDA) is an index of the sympathetic activity of the autonomic nervous system related to emotionality and homeostasis. This study compares EDA in response to acute stress in the laboratory between parents of people with (n = 30) and without (n = 34) ASD (caregivers and non-caregivers, respectively). Caregivers showed lower EDA in response to acute stress than non-caregivers. They also presented higher trait anxiety, anger, depression, and somatic symptoms than non-caregivers. Higher EDA was related to a worse mood and more severe somatic symptoms only in caregivers. These results could reflect an adaptive habituation to stress and establish that high EDA in response to acute stress depends on caregivers’ health.
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13. Simon DM, Corbett BA. {{Examining associations between anxiety and cortisol in high functioning male children with autism}}. {J Neurodev Disord};2013 (Nov 11);5(1):32.
BACKGROUND: Autism spectrum disorder (ASD) is characterized by deficits in communication and social ability, as well as restricted interests and repetitive behavior. Anxiety is a persistent anticipation or apprehension about one or more situations to which a person is exposed, and affects many people, including children with ASD. Stress, by contrast, is a response to situations that are threatening, uncontrollable, or unexpected. Indices of anxiety are often measured through informants, with parents and teachers serving as the primary sources of reported anxiety in children. However, self-report measures exist, allowing current (state) and persistent (trait) anxiety to be assessed. The current study was designed to evaluate whether children with autism could identify their own levels of anxiety and the degree to which these levels were associated with symptom profile and physiological arousal. METHODS: Self-reported state and trait anxiety were collected during exposure to different stress paradigms for 40 children (21 typically developing, 19 with autistic disorder) and compared to parent reported social ability (Social Responsiveness Scale) and stress responsivity (cortisol). RESULTS: Significant differences were found between typically developing and children with autism for both state and trait anxiety across all conditions. Associations were identified between severity of parent-reported social impairment and both types of self-report anxiety. No relationship was found between stress (salivary cortisol) and anxiety in children with autism. CONCLUSIONS: Children with autism are able to consistently report their persistent level of anxiety symptoms in stressful situations of benign character. Therefore, the inclusion of such measures may be useful in identifying and tracking symptoms in children with autism under appropriate circumstances.
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14. Stevenson RA, Siemann JK, Woynaroski TG, Schneider BC, Eberly HE, Camarata SM, Wallace MT. {{Brief Report: Arrested Development of Audiovisual Speech Perception in Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Nov 12)
Atypical communicative abilities are a core marker of Autism Spectrum Disorders (ASD). A number of studies have shown that, in addition to auditory comprehension differences, individuals with autism frequently show atypical responses to audiovisual speech, suggesting a multisensory contribution to these communicative differences from their typically developing peers. To shed light on possible differences in the maturation of audiovisual speech integration, we tested younger (ages 6-12) and older (ages 13-18) children with and without ASD on a task indexing such multisensory integration. To do this, we used the McGurk effect, in which the pairing of incongruent auditory and visual speech tokens typically results in the perception of a fused percept distinct from the auditory and visual signals, indicative of active integration of the two channels conveying speech information. Whereas little difference was seen in audiovisual speech processing (i.e., reports of McGurk fusion) between the younger ASD and TD groups, there was a significant difference at the older ages. While TD controls exhibited an increased rate of fusion (i.e., integration) with age, children with ASD failed to show this increase. These data suggest arrested development of audiovisual speech integration in ASD. The results are discussed in light of the extant literature and necessary next steps in research.
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15. Zhang W, Yan TT, Barriball KL, While AE, Liu XH. {{Post-traumatic growth in mothers of children with autism: A phenomenological study}}. {Autism};2013 (Nov 11)
While the adverse effects of raising a child with autism are well demonstrated, there have been few reports of the post-traumatic growth of mothers of children with autism. The purpose of this research was to explore dimensions of post-traumatic growth in this population in Mainland China and identify the factors facilitating post-traumatic growth. A total of 11 mothers of pre-school children were recruited from five rehabilitation centres of children with disabilities in Shanghai. The semi-structured interviews were conducted between August 2012 and October 2012 and analysed using thematic analysis. The data partially confirmed Tedeschi and Calhoun’s model of post-traumatic growth. A new philosophy of life, appreciation of life, relating to others, personal strength and spiritual change were five domains of post-traumatic growth in mothers of children with autism. Perceived social support, peer example, effective coping style and self-efficacy enhancement were facilitating factors of post-traumatic growth. Further studies are needed to understand how to promote the post-traumatic growth of mothers of children with autism.
