Esther Ben-Itzchak

Specific Neurological Phenotypes in Autism Spectrum Disorders Are Associated with Sex Representation

Autism spectrum disorder (ASD) is a heritable disorder occurring predominantly in males. The aim of this study was to compare sex differences in the prevalence of specific neurological phenotypes commonly described in ASD. The study included 663 participants, aged 18 months to 15 years, diagnosed with ASD. Neurological and behavioral assessments were performed using standardized tests, and obtaining medical, developmental, and familial histories from the parents. Phenotypes under investigation were macro‐ and microcephaly, developmental regression, minor neurological and musculoskeletal deficits (MNMD), and seizures. Male : female ratio in the ASD group was 6.7:1. No sex differences in autism severity, cognitive ability, and adaptive functioning were noted. Mean head circumference percentile for males (50.1 ± 25.6) was significantly larger than females (43.4 ± 30.2). Micro‐ and macrocephaly were more frequent in ASD than expected (5.9%; 18.1%, respectively). Microcephaly in females (15.1%) was significantly more prevalent than in males (4.5%). The prevalence of macrocephaly in both sexes did not differ significantly. Regression was noted in 30.2% of the females with ASD, significantly higher than in males (18.9%). MNMD was documented in 73.8% of the females, significantly higher than in males (57.1%). M:F ratio decreased in a group with two or more phenotypes (3.6:1), while male predominance was more significant in the group without phenotypes (13.6:1). Neurological phenotypes associated with ASD are more prevalent in females than in males, resulting in more complex clinical and neurological manifestations in females. Therefore, involvement of different etiologies is suggested in ASD in females. Autism Res 2013, 6: 596–604.

Specific Medical Conditions Are Associated with Unique Behavioral Profiles in Autism Spectrum Disorders.

Autism spectrum disorder (ASD) is a heterogeneous group of disorders which occurs with numerous medical conditions. In previous research, subtyping in ASD has been based mostly on cognitive ability and ASD symptom severity. The aim of the current study was to investigate whether specific medical conditions in ASD are associated with unique behavioral profiles. The medical conditions included in the study were macrocephaly, microcephaly, developmental regression, food selectivity, and sleep problems. The behavioral profile was composed of cognitive ability, adaptive skills, and autism severity, and was examined in each of the aforementioned medical conditions. The study population included 1224 participants, 1043 males and 181 females (M:F ratio = 5.8:1) with a mean age of 49.9 m (SD = 29.4) diagnosed with ASD using standardized tests. Groups with and without the specific medical conditions were compared on the behavioral measures. Developmental regression was present in 19% of the population and showed a more severe clinical presentation, with lower cognitive abilities, more severe ASD symptoms, and more impaired adaptive functioning. Microcephaly was observed in 6.3% of the population and was characterized by a lower cognitive ability and more impaired adaptive functioning in comparison to the normative head circumference (HC) group. Severe food selectivity was found in 9.8% and severe sleep problems in 5.1% of the ASD population. The food selectivity and sleep problem subgroups, both showed more severe autism symptoms only as described by the parents, but not per the professional assessment, and more impaired adaptive skills. Macrocephaly was observed in 7.9% of the ASD population and did not differ from the normative HC group in any of the examined behavioral measures. Based on these findings, two unique medical-behavioral subtypes in ASD that affect inherited traits of cognition and/or autism severity were suggested. The microcephaly phenotype occurred with more impaired cognition and the developmental regression phenotype with widespread, more severe impairments in cognition and autism severity. In contrast, severe food selectivity and sleep problems represent only comorbidities to ASD that affect functioning. Defining specific subgroups in ASD with a unique biological signature and specific behavioral phenotypes may help future genetic and neuroscience research.

The effectiveness of an outdoor adventure programme for young children with autism spectrum disorder: a controlled study

Outdoor adventure programmes aim to improve interpersonal relationships using adventurous activities. The current study examined the effectiveness of an outdoor adventure programme in children with autism spectrum disorders (ASD).

Having Siblings is Associated with Better Social Functioning in Autism Spectrum Disorder

Sibling relationships play a unique developmental role, especially in emotional and social domains. In autism spectrum disorder (ASD), social-communication skills are often impaired in comparison to typical development. Therefore, studying siblings’ effects on social skills of the child with ASD is important. This retrospective study examined how autism severity and functioning were affected by having older and younger sibling/s, the sex of the index child and of the sibling, and the number of siblings. The study population included 150 participants with ASD (mean age = 4:0 ± 1:6), divided into three equal groups (no sibling, older and younger siblings), matched for cognitive level. The evaluation included neurological and standardized behavioral, cognitive, and functional assessments. Children with ASD with older siblings showed less severe social interaction deficits and better social adaptive skills than only children. No significant differences in autism severity and adaptive functioning were noted between the group with younger siblings and the other groups. The more older siblings the affected child had, the better their social functioning. The sex of the participants with ASD and that of the sibling were not associated with social functioning. Social interaction deficits, the presence of older or younger siblings for children with ASD, and higher cognitive ability contributed significantly to the explained variance (48.9%) in social adaptive skills. These findings emphasize that older siblings positively influence the social skills of their younger sibling with ASD. The effect of typically developing younger siblings was modest and seen only in children with ASD and better cognition.