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

The neuropsychological function of children with achondroplasia.

American journal of medical genetics. Part A - 1 Nov 2016

Wigg Kimberley, Tofts Louise, Benson Suzanne, Porter Melanie

Abstract excerpt

The current observational study had three specific objectives: (i) to document any neuropsychological impairment in a sample of children with achondroplasia; (ii) to explore individual variability; and (iii) to determine the functional impact of any impairments. Fourteen children aged between 6 and 15 years with a medically confirmed diagnosis of achondroplasia (FGFR 3 mutation positive) underwent a comprehensive...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Attention
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cognition

Share to Executive Function

Share to Intelligence

Share to Memory

Share to Neuropsychological Tests

Source

Identifiers

PMID: 27605460
DOI: 10.1002/ajmg.a.37779

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

The neuropsychological function of children with achondroplasia.PMID 27605460Read ↗

Cognitive phenotype and language skills in children with achondroplasia.Semantic proximity Read ↗

Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles.Semantic proximity Read ↗

Neuropsychological findings in two children diagnosed with hamartoses: evidence of a NLD phenotypic profile.Semantic proximity Read ↗

Cognitive phenotype of childhood myotonic dystrophy type 1: A multicenter pooled analysis.Semantic proximity Read ↗

The Cognitive Profile of Friedreich Ataxia: A Systemic Review and Meta-Analysis.Semantic proximity Read ↗

Cognitive, adaptive, and behavioral features in Joubert syndrome.Semantic proximity Read ↗

Development of a Cognitive Assessment Battery for Adolescents and Adults with Kabuki Syndrome Type 1Semantic proximity Read ↗

Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.Semantic proximity Read ↗

Assessment of Adaptive Functioning and the Impact of Seizures in KBG Syndrome.Semantic proximity Read ↗

Neurobehavioral features in individuals with Kabuki syndrome.Semantic proximity Read ↗

Visual-motor integration deficits in 3q29 deletion syndromeSemantic proximity Read ↗

Adaptive behavior deficits in individuals with 3q29 deletion syndromeSemantic proximity Read ↗

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