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Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs
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Tess Levy; Cristan Farmer; Siddharth Srivastava; Kristina Johnson; Jadyn Trayvick; Camille Brune; Alexandra Massa; Hailey Silver; Paige M. Siper; Jessica Zweifach; Danielle Halpern; Jennifer H. Foss-Feig; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Craig M. Powell; Mustafa Sahin; Latha Valluripalli Soorya; Audrey Thurm; Joseph D. Buxbaum; Alexander Kolevzon – American Journal on Intellectual and Developmental Disabilities, 2025
The clinical spectrum of Phelan-McDermid syndrome (PMS) is varied, with wide-ranging degrees of intellectual disability, developmental delays, behavioral abnormalities, and medical features. Different types of genetic variation lead to PMS, and differing genotypes (e.g., size of deletion or type of variant) account for some of this variability,…
Descriptors: Genetics, Genetic Disorders, Intellectual Disability, Developmental Delays
Novel Variants of the "SMARCA4" Gene Associated with Autistic Features Rather than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
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Qian, Yanyan; Zhou, Yuanfeng; Wu, Bingbing; Chen, Huiyao; Xu, Suzhen; Wang, Yao; Zhang, Ping; Li, Gang; Xu, Qiong; Zhou, Wenhao; Xu, Xiu; Wang, Huijun – Journal of Autism and Developmental Disorders, 2022
Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. "SMARCA4" is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the…
Descriptors: Autism Spectrum Disorders, Children, Genetics, Intellectual Disability
Neurogenesis, Myelination, and Circuitry: The Case for a Distributed Therapeutic Regimen in Down Syndrome
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Haydar, Tarik F. – American Journal on Intellectual and Developmental Disabilities, 2020
One of the overriding hopes of the Down syndrome (DS) research community is to arrive at a better understanding of how trisomy 21 affects brain development and function, and that doing so will improve quality of life and independence for people with DS. In searching for the underlying causes of intellectual disability in DS, researchers and…
Descriptors: Down Syndrome, Medical Research, Brain Hemisphere Functions, Genetic Disorders
Intervention Response by Genetic Subtype: PRETEND-Preschool Program for Children with Prader-Willi Syndrome via Remote Parent Training
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Dimitropoulos, Anastasia; Doernberg, Ellen A.; Russ, Sandra W.; Zyga, Olena – Journal of Autism and Developmental Disorders, 2022
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder associated with social cognitive challenges, and pretend play has been demonstrated as a tool to achieve developmental goals. Following previous report on feasibility and acceptability of a remote, play-based parent-training program (Zyga, Russ, & Dimitropoulos, 2018), we now…
Descriptors: Genetics, Intervention, Response to Intervention, Genetic Disorders
The Cognitive and Behavioral Phenotypes of Individuals with "CHRNA7" Duplications
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Gillentine, M. A.; Berry, L. N.; Goin-Kochel, R. P.; Ali, M. A.; Ge, J.; Guffey, D.; Rosenfeld, J. A.; Hannig, V.; Bader, P.; Proud, M.; Shinawi, M.; Graham, B. H.; Lin, A.; Lalani, S. R.; Reynolds, J.; Chen, M.; Grebe, T.; Minard, C. G.; Stankiewicz, P.; Beaudet, A. L.; Schaaf, C. P. – Journal of Autism and Developmental Disorders, 2017
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and "CHRNA7" implicated as a candidate gene. However, the pathogenicity of duplications of…
Descriptors: Children, Genetics, Developmental Delays, Intellectual Disability
Brief Report: Autism Symptoms in Infants with Fragile X Syndrome
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Roberts, Jane E.; Tonnsen, Bridgette L.; McCary, Lindsay M.; Caravella, Kelly E.; Shinkareva, Svetlana V. – Journal of Autism and Developmental Disorders, 2016
Fragile X syndrome (FXS) is the most common known genetic cause of autism spectrum disorder (ASD). Although 50-75% of children with FXS meet ASD criteria, no studies have compared ASD symptoms in infants with FXS versus other high risk groups, such as siblings of children with ASD (ASIBs). Using the Autism Observation Scale for Infants, our…
Descriptors: Genetic Disorders, Intellectual Disability, Congenital Impairments, Infants
Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series
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Hogan, Abigail L.; Caravella, Kelly E.; Ezell, Jordan; Rague, Lisa; Hills, Kimberly; Roberts, Jane E. – Journal of Autism and Developmental Disorders, 2017
No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. This paper describes the developmental profiles of eight infants with FXS from 9 to 24 months of age. Four meet diagnostic criteria for ASD at 24 months of age, and four do not.…
Descriptors: Autism, Pervasive Developmental Disorders, Symptoms (Individual Disorders), Infants
Comparing the Broad Socio-Cognitive Profile of Youth with Williams Syndrome and 22Q11.2 Deletion Syndrome
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Weisman, O.; Feldman, R.; Burg-Malki, M.; Keren, M.; Geva, R.; Diesendruck, G.; Gothelf, D. – Journal of Intellectual Disability Research, 2017
Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Methods: Eighty-two children participated…
Descriptors: Comparative Analysis, Intellectual Disability, Intelligence Tests, Interpersonal Competence
16p11.2 Deletion Mice Display Cognitive Deficits in Touchscreen Learning and Novelty Recognition Tasks
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Yang, Mu; Lewis, Freeman C.; Sarvi, Michael S.; Foley, Gillian M.; Crawley, Jacqueline N. – Learning & Memory, 2015
Chromosomal 16p11.2 deletion syndrome frequently presents with intellectual disabilities, speech delays, and autism. Here we investigated the Dolmetsch line of 16p11.2 heterozygous (+/-) mice on a range of cognitive tasks with different neuroanatomical substrates. Robust novel object recognition deficits were replicated in two cohorts of 16p11.2…
Descriptors: Intellectual Disability, Delayed Speech, Autism, Genetics
Change in the Behavioral Phenotype of Adolescents and Adults with FXS: Role of the Family Environment
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Smith, Leann E.; Hong, Jinkuk; Greenberg, Jan S.; Mailick, Marsha R. – Journal of Autism and Developmental Disorders, 2016
The present study examined trajectories of adaptive behavior, behavior problems, psychological symptoms, and autism symptoms in adolescents and adults with fragile X syndrome (n = 147) over a three-year period. Adaptive behavior significantly increased over time, particularly for adolescents, and the severity of behavior problems decreased over…
Descriptors: Family Environment, Behavior Change, Family Role, Adolescents