Podcast: Where are all the girls with autism? Live from the Seaver Center Conference
Assessing anxiety in autism spectrum disorder (ASD) is inherently challenging due to overlapping (e.g., social avoidance) and ambiguous symptoms (e.g., fears of change). An ASD addendum to the Anxiety Disorders Interview Schedule-Child/Parent, Parent Version (ADIS/ASA) was developed to provide a systematic approach for differentiating traditional anxiety disorders from symptoms of ASD and more ambiguous, ASD-related anxiety symptoms. Interrater reliability and convergent and discriminant validity were examined in a sample of 69 youth with ASD (8-13 years, 75% male, IQ = 68-143) seeking treatment for anxiety. The parents of participants completed the ADIS/ASA and a battery of behavioral measures. A second rater independently observed and scored recordings of the original interviews. Findings suggest reliable measurement of comorbid (intraclass correlation = 0.85-0.98, κ = 0.67-0.91) as well as ambiguous anxiety-like symptoms (intraclass correlation = 0.87-95, κ = 0.77-0.90) in children with ASD. Convergent and discriminant validity were supported for the traditional anxiety symptoms on the ADIS/ASA, whereas convergent and discriminant validity were partially supported for the ambiguous anxiety-like symptoms. Results provide evidence for the reliability and validity of the ADIS/ASA as a measure of traditional anxiety categories in youth with ASD, with partial support for the validity of the ambiguous anxiety-like categories. Unlike other measures, the ADIS/ASA differentiates comorbid anxiety disorders from overlapping and ambiguous anxiety-like symptoms in ASD, allowing for more precise measurement and clinical conceptualization. Ambiguous anxiety-like symptoms appear phenomenologically distinct from comorbid anxiety disorders and may reflect either symptoms of ASD or a novel variant of anxiety in ASD.
Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations. One LENA-derived language measure, Vocalization Ratio, had improved accuracy in this sample and may represent a novel expressive language measure for use in severely affected populations.
Keywords: 22q13 deletion syndrome; Autism spectrum disorder; Automated vocal analysis; Language ENvironment Analysis; Minimally verbal; Phelan-McDermid syndrome.
Background: Phelan-McDermid syndrome (PMS) occurs as a result of a chromosomal abnormality, most frequently
deletion, in the long arm of chromosome 22, involving the SHANK3 gene. Our goal was to prospectively assess the
neurological phenotype in this syndrome.
METHODS: Twenty-nine participants were recruited from ongoing studies in PMS at the Seaver Autism Center. They
had a structured, uniform neurological examination performed by a pediatric neurologist (Y.F.). Abnormal findings
were graded as mild, moderate or severe. In addition, reports of seizures, magnetic resonance imaging (MRI) and
electroencephalograms (EEG) were reviewed. We calculated the frequency and severity of neurological
abnormalities, as well as correlations between items on the neurological examination and items on the Mullen Scales
of Early Learning and on the Vineland Adaptive Behavioral Scales (VABS).
RESULTS: Hypotonia, abnormal gait, fine motor coordination deficits, and expressive and receptive language delays
were present in all participants. Attention deficits were present in 96% (severe in 62%), and abnormal visual tracking
was present in 86%. A history of seizures was obtained in 44.8% of participants but 46.1% of these were febrile only.
Of the 13 EEG reports available for review – 69.2% were abnormal- with epileptic features present in 53.8%.
Abnormalities were present in 62.5% of MRI reports. Correlations were found between neurological abnormalities
and scores on the Mullen and Vineland Scales.
CONCLUSIONS: Neurological abnormalities are very common in PMS and are correlated with measures of cognitive
and adaptive functioning. The neurological examination may be used for clinical diagnosis, identification of PMS
phenotypes, and, in the future, for evaluation of therapy.