Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.

American journal of medical genetics. Part A - 1 Dec 2021

Schwartz David D, Fein Rachel H, Carvalho Claudia M B, Sutton V Reid, Mazzeu Juliana F, Axelrad Marni E

Abstract excerpt

It has been estimated that 10-15% of people with Robinow syndrome (RS) show delayed development, but no studies have formally assessed developmental domains. The objective of this study is to provide the first description of cognitive, adaptive, and psychological functioning in RS. Thirteen participants (10 males) aged 4-51 years were seen for neuropsychological screening. Eight had autosomal-dominant RS (DVL1,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Craniofacial Abnormalities
Share to Dishevelled Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dwarfism

Share to Learning Disabilities

Share to Limb Deformities, Congenital

Share to Neurocognitive Disorders

Share to Urogenital Abnormalities

Share to Wnt-5a Protein

Source

Identifiers

PMID: 32954672
DOI: 10.1002/ajmg.a.61854

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.PMID 32954672Read ↗

Down syndrome: Cognitive and behavioral functioning across the lifespan.Semantic proximity Read ↗

Neurobehavioral profile of individuals with pathogenic variants in CHD3Semantic proximity Read ↗

Cohen Syndrome: Essential features, natural history, and heterogeneitySemantic proximity Read ↗

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome.Semantic proximity Read ↗

Executive functions in people with Williams syndrome: a scoping reviewSemantic proximity Read ↗

Neurobehavioral profile of individuals with pathogenic variants in CHD3.Semantic proximity Read ↗

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.Semantic proximity Read ↗

Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.Semantic proximity Read ↗

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.Semantic proximity Read ↗

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.Semantic proximity Read ↗

Cognitive and psychosocial phenotype of young children with neurofibromatosis-1.Semantic proximity Read ↗

Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.