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

Understanding speech and language in KIF1A-associated neurological disorder.

European journal of human genetics : EJHG - 1 Jan 2026

Morison Lottie D, Vogel Adam P, Christodoulou John, Gold Wendy A, Verden Dylan, Chung Wendy K, Braden Ruth, Bredebusch Joanna, Kaur Simranpreet, Scheffer Ingrid E, Morgan Angela T

Abstract excerpt

KIF1A-associated neurological disorder (KAND) is a genetic condition characterised by motor, cognitive and ophthalmologic features. The speech and language phenotype have not been systematically analysed. Here, we assess speech and language using observer- and clinician-reported outcomes, and performance outcome measures. 44 individuals (25 female) with KAND (median age 7 years, range 1-60 years) participated....

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Infant

Share to Kinesins

Share to Nervous System Diseases

Share to Speech

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 40379967
DOI: 10.1038/s41431-025-01867-0
PMCID: PMC12816008

Genes

KIF1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Understanding speech and language in KIF1A-associated neurological disorder.PMID 40379967Read ↗

Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.Semantic proximity Read ↗

Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel featureSemantic proximity Read ↗

Speech and language in a genotyped cohort of individuals with Kabuki syndrome.Semantic proximity Read ↗

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.Semantic proximity Read ↗

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorderSemantic proximity Read ↗

CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel casesSemantic proximity Read ↗

MED13L-related disorder characterized by severe motor speech impairmentSemantic proximity Read ↗

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.Semantic proximity Read ↗

Speech and language deficits are central to SETBP1 haploinsufficiency disorder.Semantic proximity Read ↗

10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.Semantic proximity Read ↗

CLCN4 -Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities.Semantic proximity Read ↗

“I Felt Like a Lone Ranger”: Experiences of Australian Families Living with KIF1A-Associated Neurological DisorderSemantic proximity Read ↗

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