Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments

Walkley, Steven U.; Abbeduto, Leonard; Batshaw, Mark L.; Bhattacharyya, Anita; Bookheimer, Susan Y.; Christian, Bradley T.; Constantino, John N.; Vellis, Jean de; Doherty, Daniel; Nelson, David L.; Piven, Joseph; Poduri, Annapurna; Pomeroy, Scott L.; Samaco, Rodney C.; Zoghbi, Huda Y.; Guralnick, Michael J.

doi:10.1002/ana.25531

Cited by 6 publications

(4 citation statements)

References 102 publications

(233 reference statements)

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“…Some types of developmental disabilities have been studied more than others in relation to birth month: 14 on autism spectrum disorder, but only four on language impairments, two on intellectual/learning disabilities, and none on speech impairment, despite the latter being one of the most common developmental disabilities (Prelock et al, 2008; Roulstone et al, 2009). Given that each developmental disability likely has unique mechanisms (Walkley et al, 2019), it is important to study each independently. Finally, most reports of birth month effects on developmental disabilities have been conducted in more moderate or colder regions (see Figure 1).…”

Section: Birth Month and Developmental Disabilitiesmentioning

confidence: 99%

Rates of Developmental Disabilities Vary Across Birth Months in a Tropical Climate

et al. 2023

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Developmental disability rates may vary by the season or month in which children are born. However, the seasonal mechanisms, such as climate, underlying these variations are unclear. Previous studies focused on high-latitude regions, leaving this climate hypothesis only partially tested. We analyzed rates of developmental disabilities in 3- to 5-year-old children from a tropical climate—South Florida—from 2004 to 2015 ( N = 79,047) using a time-series analysis to identify peaks in diagnoses based on birth months. Children with speech impairments were more likely to be born in March, April, and September, a novel finding. Children with developmental delays were more likely to be born in September and October, consistent with studies in colder regions. In contrast to prior studies, there were no effects of birth month for language impairment or autism spectrum disorder. We highlight potential prenatal mechanisms that may contribute to the seasonal variations in some developmental disabilities.

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Section: Birth Month and Developmental Disabilitiesmentioning

confidence: 99%

Rates of Developmental Disabilities Vary Across Birth Months in a Tropical Climate

et al. 2023

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“…The Eunice Kennedy Shriver Intellectual and Developmental Disability Research Centers (IDDRC) are an established network of researchers funded by the National Institutes of Child Health and Human Development that collaborate to expand basic and translational research to better understand the causes of intellectual and developmental disabilities and to develop effective therapies for these disorders. 7 The mission of the IDDRC-CTSA (Clinical Translational Science Awards) Brain Gene Registry (BGR) is to accelerate and enrich the systematic evaluation of putative “brain genes” (ie, genes implicated in neurodevelopment with varying degrees of evidence) by establishing a data repository with paired genomic and phenotypic data. In this collaborative initiative, individuals with clinically reported variants in any gene implicated in neurodevelopment are enrolled through 1 of the 10 recruiting IDDRC sites.…”

Section: Introductionmentioning

confidence: 99%

Clinical variants paired with phenotype: A rich resource for brain gene curation

Chopra,

Savatt,

Bingaman

et al. 2024

Genetics in Medicine

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“…The project received NIH funding beginning in May 2020. Participant recruitment/enrollment is ongoing across 12 Eunice Kennedy Shriver Intellectual and Developmental Disability Research Centers (IDDRCs), which form a collaborative network of institutions devoted to research into causes and treatments of NDDs [ 11 ]. Participant-level data are assembled from electronic health records (EHRs), a battery of remotely administered standardized assessments collectively referred to as the Rapid Neurobehavioral Assessment Protocol (RNAP), and co-enrollment data from the Clinical Genome Resource’s (ClinGen) GenomeConnect registry, which includes participant/caregiver completed surveys and structured genomic data collection and sharing.…”

Section: Introductionmentioning

confidence: 99%

The Brain Gene Registry: a data snapshot

Baldridge,

Kaster,

Sancimino

et al. 2024

J Neurodevelop Disord

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Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes. Phenotypic profiles are assembled from the electronic health record (EHR) and a battery of remotely administered standardized assessments collectively referred to as the Rapid Neurobehavioral Assessment Protocol (RNAP), which include cognitive, neurologic, and neuropsychiatric assessments, as well as assessments for attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Co-enrollment of BGR participants in the Clinical Genome Resource’s (ClinGen’s) GenomeConnect enables display of variant information in ClinVar. The BGR currently contains data on 479 participants who are 55% male, 6% Asian, 6% Black or African American, 76% white, and 12% Hispanic/Latine. Over 200 genes are represented in the BGR, with 12 or more participants harboring variants in each of these genes: CACNA1A, DNMT3A, SLC6A1, SETD5, and MYT1L. More than 30% of variants are de novo and 43% are classified as variants of uncertain significance (VUSs). Mean standard scores on cognitive or developmental screens are below average for the BGR cohort. EHR data reveal developmental delay as the earliest and most common diagnosis in this sample, followed by speech and language disorders, ASD, and ADHD. BGR data has already been used to accelerate gene-disease validity curation of 36 genes evaluated by ClinGen’s BGR Intellectual Disability (ID)-Autism (ASD) Gene Curation Expert Panel. In summary, the BGR is a resource for use by stakeholders interested in advancing translational research for brain genes and continues to recruit participants with clinically reported variants to establish a rich and well-characterized national resource to promote research on neurodevelopmental disorders.

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Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments

Cited by 6 publications

References 102 publications

Rates of Developmental Disabilities Vary Across Birth Months in a Tropical Climate

Rates of Developmental Disabilities Vary Across Birth Months in a Tropical Climate

Clinical variants paired with phenotype: A rich resource for brain gene curation

The Brain Gene Registry: a data snapshot

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