ABSTRACT
Autism spectrum disorders are more prevalent in children who are Deaf or Hard of Hearing (D/HH) than in the general population. This potential for diagnostic overlap underscores the importance of understanding the best approaches for assessing autism spectrum disorder in D/HH youths. Despite the recognition of clinical significance, youths who are D/HH are often identified as autistic later than individuals with normal hearing, which results in delayed access to appropriate early intervention services. Three primary barriers to early identification include behavioral phenotypic overlap, a lack of "gold-standard" screening and diagnostic tools for this population, and limited access to qualified clinicians. In the current article, we seek to address these barriers to prompt an appropriate identification of autism by providing recommendations for autism assessment in children who are D/HH from an interdisciplinary hearing and development clinic, including virtual service delivery during COVID-19. Strengths, gaps, and future directions for implementation are addressed.
Subject(s)
Autism Spectrum Disorder , Autistic Disorder , COVID-19 , Deafness , Hearing Loss , Child , Humans , Adolescent , Deafness/diagnosis , Autistic Disorder/diagnosis , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/therapy , COVID-19/diagnosis , HearingABSTRACT
OBJECTIVE: To describe the development of young boys with fragile X syndrome (FXS). METHODS: Fifty-five boys (aged 8-48 months at study entry) with the full mutation FXS received multiple developmental assessments. RESULTS: As expected, the boys' rate of development was significantly lower than chronological age expectations. No evidence of slowing in the rate of development was found. Autistic behavior was negatively associated with development, but maternal IQ was not. Developmental delays were evident in some domains as early as 9 months; however, initial detection of delays is complicated by measures and criteria used. Developmental age scores at 31 months of age were related to scores obtained at 61 months of age only in the global composite and visual reception domain. CONCLUSIONS: Developmental delays are evident in some infants with FXS as young as 9 months of age. Pediatric psychologists need to be informed about the developmental profiles in young children with FXS to accurately diagnose, treat, and support these children and their families.
Subject(s)
Autistic Disorder/diagnosis , Developmental Disabilities/diagnosis , Fragile X Syndrome/diagnosis , Age Factors , Autistic Disorder/psychology , Child, Preschool , Comorbidity , Developmental Disabilities/psychology , Developmental Disabilities/therapy , Diagnosis, Differential , Early Intervention, Educational , Fragile X Syndrome/psychology , Fragile X Syndrome/therapy , Humans , Infant , Intelligence , Longitudinal Studies , MaleABSTRACT
Fragile X syndrome (FXS) is a model for studying the relative contributions of genetic and environmental factors to psychiatric disorders in mothers of children with disabilities. Here, we examine the frequency and predictors of mood and anxiety disorders in mothers with the FMR1 premutation. Ninety-three females with the FMR1 premutation were in the study and were compared to 2,159 women from the National Comorbidity Survey Replication (NCS-R) dataset. Mood and anxiety disorders were assessed using the SCID-I. Our data reflect elevated lifetime major depressive disorder (MDD), lifetime panic disorder without agoraphobia and current agoraphobia without panic disorder in the FMR1 premutation sample. Also, we found a low frequency of lifetime social phobia, specific phobia, and post-traumatic stress disorders and current specific phobia in the FMR1 premutation sample. The profile of MDD in the FMR1 premutation sample was not episodic or comorbid with an anxiety disorder, as in the NCS-R dataset. Never having been married and smaller CGG repeat length were associated with increased likelihood of MDD while increased children with FXS in the family and greater child problem behaviors were associated with increased likelihood of an anxiety disorder in the FMR 1 premutation group. Major depression in females with the FMR1 premutation may not be characterized as an episodically chronic recurrent disorder as it is in community samples and may have a genetic basis given the relationship with CGG repeat length and lack of association with all child and most demographic factors.
Subject(s)
Anxiety/genetics , Fragile X Mental Retardation Protein/genetics , Mood Disorders/genetics , Mutation , Adolescent , Age of Onset , Female , HumansABSTRACT
We examined autistic behavior in a cross-sectional sample of 179 children with fragile X syndrome (FXS) and a longitudinal subset of 116 children using the Childhood Autism Rating Scale (CARS) to (a) determine a prevalence of autistic behavior in FXS, (b) examine the stability of autistic ratings over time, and (c) assess the association between the fragile X mental retardation protein (FMRP) and autistic behavior. Approximately 21% of the sample of 129 children (25.9% of boys) scored at or above the cutoff for autism. CARS scores increased slowly, yet significantly, over time, and low levels of FMRP were associated with higher mean levels of autistic behavior as measured by the CARS.
