1. Beal JC. {{Case Report: Neuronal Migration Disorder Associated With Chromosome 15q13.3 Duplication in a Boy With Autism and Seizures}}. {J Child Neurol};2013 (Nov 25)
Neuronal migration disorders are a group of disorders that cause structural brain abnormalities and varying degrees of neurocognitive impairment, resulting from abnormal neuronal migration during brain development. There are several mutations that have been associated with these disorders. Here the case of a 4-year-old autistic boy is presented, who was found to have evidence of a neuronal migration disorder on magnetic resonance imaging (MRI) during a workup for seizures. Genetic testing did not reveal any of the gene mutations known to be associated with neuronal migration disorders but did reveal a microduplication at chromosome 15q13.3, a locus that has been previously associated with autism, cognitive impairment, and seizures. Although the concurrent presence of the genetic and structural abnormalities does not necessarily imply causality, the simultaneous independent occurrence of both conditions is certainly unusual. It is possible that there may be an association between this duplication syndrome and aberrant neuronal migration.
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2. Duncan AW, Bishop SL. {{Understanding the gap between cognitive abilities and daily living skills in adolescents with autism spectrum disorders with average intelligence}}. {Autism};2013 (Nov 25)
Daily living skills standard scores on the Vineland Adaptive Behavior Scales-2nd edition were examined in 417 adolescents from the Simons Simplex Collection. All participants had at least average intelligence and a diagnosis of autism spectrum disorder. Descriptive statistics and binary logistic regressions were used to examine the prevalence and predictors of a « daily living skills deficit, » defined as below average daily living skills in the context of average intelligence quotient. Approximately half of the adolescents were identified as having a daily living skills deficit. Autism symptomatology, intelligence quotient, maternal education, age, and sex accounted for only 10% of the variance in predicting a daily living skills deficit. Identifying factors associated with better or worse daily living skills may help shed light on the variability in adult outcome in individuals with autism spectrum disorder with average intelligence.
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3. Faja S, Dawson G. {{Performance on the dimensional change card sort and backward digit span by young children with autism without intellectual disability}}. {Child Neuropsychol};2013 (Nov 25)
The early development of executive function (EF) and its relation to autism symptom expression is of considerable theoretical interest, particularly in children without general cognitive delay. Executive function was tested in 23 children with autism spectrum disorders (ASD) without intellectual disability and 20 age- and IQ-matched typically developing children. Even though performance was equivalent between the two groups on tests of general intelligence, flexibility in card sorting was lower for children with ASD. Verbal working memory during the backward digit span did not differ between groups. Among children with ASD, poorer performance on card sorting distinguished a subgroup with worse social-communication functioning above and beyond IQ. Controlling for IQ social and repetitive symptoms of ASD did not differ based on card sorting ability.
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4. Grabrucker S, Jannetti L, Eckert M, Gaub S, Chhabra R, Pfaender S, Mangus K, Reddy PP, Rankovic V, Schmeisser MJ, Kreutz MR, Ehret G, Boeckers TM, Grabrucker AM. {{Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and might contribute to autism spectrum disorders}}. {Brain};2013 (Nov 25)
Proteins of the ProSAP/Shank family act as major organizing scaffolding elements within the postsynaptic density of excitatory synapses. Deletions, mutations or the downregulation of these molecules has been linked to autism spectrum disorders, the related Phelan McDermid Syndrome or Alzheimer’s disease. ProSAP/Shank proteins are targeted to synapses depending on binding to zinc, which is a prerequisite for the assembly of the ProSAP/Shank scaffold. To gain insight into whether the previously reported assembly of ProSAP/Shank through zinc ions provides a crossing point between genetic forms of autism spectrum disorder and zinc deficiency as an environmental risk factor for autism spectrum disorder, we examined the interplay between zinc and ProSAP/Shank in vitro and in vivo using neurobiological approaches. Our data show that low postsynaptic zinc availability affects the activity dependent increase in ProSAP1/Shank2 and ProSAP2/Shank3 levels at the synapse in vitro and that a loss of synaptic ProSAP1/Shank2 and ProSAP2/Shank3 occurs in a mouse model for acute and prenatal zinc deficiency. Zinc-deficient animals displayed abnormalities in behaviour such as over-responsivity and hyperactivity-like behaviour (acute zinc deficiency) and autism spectrum disorder-related behaviour such as impairments in vocalization and social behaviour (prenatal zinc deficiency). Most importantly, a low zinc status seems to be associated with an increased incidence rate of seizures, hypotonia, and attention and hyperactivity issues in patients with Phelan-McDermid syndrome, which is caused by haploinsufficiency of ProSAP2/Shank3. We suggest that the molecular underpinning of prenatal zinc deficiency as a risk factor for autism spectrum disorder may unfold through the deregulation of zinc-binding ProSAP/Shank family members.
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5. Thurm A, Manwaring SS, Luckenbaugh DA, Lord C, Swedo SE. {{Patterns of skill attainment and loss in young children with autism}}. {Dev Psychopathol};2013 (Nov 25):1-12.
The purpose of this study was to extend the literature on the ontogeny of autism spectrum disorder (ASD) by examining early attainment and loss of specific sociocommunicative skills in children with autism (AUT; n = 125), pervasive developmental disorder not otherwise specified (PDD-NOS; n = 42), nonspectrum developmental delays (n = 46), and typical development (n = 31). The ages of skill attainment and loss were obtained from a caregiver interview. The findings indicated that children with AUT, PDD-NOS, and developmental delays diverged from typically developing children in attainment of sociocommunicative skills early in the first year of life. Loss of at least one skill was reported in a majority of children with AUT and PDD-NOS. Significant delays in attainment of skills were also reported in children who lost skills. The wide variation in skill attainment and loss reported across children indicates that symptom onset and regression may be best represented continuously, with at least some early delay and loss present for a great majority of children with ASD.
