Amy Philofsky

Linguistic and Cognitive Functioning and Autism Symptoms in Young Children With Fragile X syndrome

Linguistic and cognitive profiles were examined in 18 children with autism and 18 children with fragile X syndrome (mean ages = 34 months). State-of-the-art diagnostic procedures for autism symptom identification were administered. Eight children with fragile X met criteria for autism. Comparison of linguistic and cognitive profiles (autism, fragile X without autism, fragile X with autism) revealed that children with fragile X (with autism) were more impaired in nonverbal cognition and expressive language. Receptive language was a relative strength for children with fragile X (without autism). There were no differences in receptive language in children with autism, regardless of fragile X status. Low receptive language may be a marker for autism symptoms in young children with fragile X.

Nonverbal Requesting and Problem-Solving by Toddlers with Down Syndrome.

The association between nonverbal requesting (as measured by the Early Social Communication Scales) and problem-solving skills (as measured by an object retrieval task) was examined in 16 toddlers who had Down syndrome, 18 toddlers with developmental disabilities of mixed etiologies, and 19 typically developing infants and toddlers. Toddlers with Down syndrome showed fewer instrumental requests than did those in the typically developing group, but equal numbers of social routine requests. Toddlers with Down syndrome also showed poorer problem-solving strategies and received more help than children in both comparison groups on the object-retrieval task. Results showed a significant association between instrumental requests and problem-solving in the Down syndrome group. Implications for strengthening problem-solving skills in Down syndrome are discussed.

Longitudinal changes in Scores on the Autism Diagnostic Interview-Revised (ADI-R) in pre-school children with autism: Implications for diagnostic classification and symptom stability

We prospectively examined mean changes in Autism Diagnostic Interview—Revised (ADI-R) Total and Domains scores and stability of the ADI-R diagnostic classification in 28 children with autism initially assessed at age 2—4 years and reassessed 2 years later. Mean Total, Social Interaction, and Communication scores decreased significantly from Time 1 to Time 2 Restricted/repetitive Domain mean scores did not change over time. The ADI-R diagnostic classification was stable in 67% of children using the current published criteria. The stability increased to 78% when a modified criterion was used in the Restricted/repetitive Domain and to 88% when the broader ASD criteria were used. Among pre-schoolers with autism, parent-reported symptoms decreased significantly at two-year follow-up in Social and Communication Domains but not in the Restricted/repetitive Domain. However, ADI-R diagnostic classification remained relatively stable over time. Revising ADI-R diagnostic criteria in the Restricted/repetitive Domain or including the broader ASD criteria may improve its sensitivity and diagnostic stability in younger children.

A Case Study of Early Development in Smith-Magenis Syndrome

The aim of this article is to provide an in-depth description of early development in a young child With Smith-Magenis syndrome (SMS). SMS is a multisystem, neurodevelopmental genetic disorder associated With mental retardation that predisposes individuals to a distinct pattern of maladaptive behaviors and other neuropsychological impairments. While there is some research describing outcomes for individuals With SMS in middle childhood, adolescence, and young adulthood, very feW descriptions of early development are available in the literature.

Social-Perceptual and Social-Cognitive Skills in Young Children with Williams Syndrome: Evidence for Discontinuity

Abstract Dissociations between social-perceptual (i.e., dynamic perceptions of affective cues) and social-cognitive processing (i.e., interpretation or reasoning with regard to the affective information) have been found in adolescents and adults with Williams syndrome; however, less is known about the developmental precursors of these skills in children with this neurogenetic syndrome. In this review, we examine the literature on social-cognitive skills in children with Williams syndrome. We then present a case report that examines the early social and communication behaviors in young children with Williams syndrome (under 5) that provides additional evidence for an early emerging strength in social-perceptual processing and a weakness in social-cognitive skills. The dissociation of early social-perceptual and social-cognitive behaviors leads to theoretical questions concerning the role of joint attention in language development, as well as the impact of shared attention on social reciprocity.

A Case Study of Early Development in Williams Syndrome: Implications for Early Intervention.

The aim of this article is to provide an in-depth description of the behavioral phenotype of Williams syndrome in a preschool-aged child. Williams syndrome is a neurodevelopmental, multisystem genetic disorder associated with mental retardation that predisposes individuals to a characteristic pattern of strengths and weaknesses in neuropsychological functioning. While much is known about functioning in adults, very few descriptions of early development are available in the literature. Implications for designing early intervention programs for children with this debilitating disorder are discussed.