An extended Family with a Dominantly Inherited Speech Disorder

  title={An extended Family with a Dominantly Inherited Speech Disorder},
  author={Jane A. Hurst and Michael Baraitser and E Auger and F Graham and Sarah Norell},
  journal={Developmental Medicine \& Child Neurology},
A three‐generation family is described in which 16 members have a severe developmental verbal dyspraxia. Inheritance is autosomal dominant, with full penetrance. Intelligence and hearing are normal. 

Developmental Disorders of Language

A developmental disorder of language is a significant delay or impairment in the expression and/or comprehension of language in the absence of a known cause. Keywords: language; development;

Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations

  • D. Horn
  • Medicine
    Molecular Syndromology
  • 2011
Mild craniofacial abnormalities found in half of the described patients expand the clinical spectrum associated with FOXP1 mutations.

Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation

Molecular studies on this syndrome could be relevant to identifying a gene for benign rolandic epilepsy where anticipation does not occur and the mode of inheritance is uncertain, and clinical anticipation of the seizure disorder, the oral and speech dyspraxia, and cognitive dysfunction is shown.

“An Extended Family with a Dominantly Inherited Speech Disorder” (1990), by Jane A. Hurst et al.

The authors' conclusions helped researchers better describe and explain language as a developmental and biological phenomenon and led later researchers to discover the proposed gene, mutations to which caused the language disorder.

Segregation analysis of speech and language disorders

Although there is strong evidence for familial transmission of this trait, it was unable to distinguish between a major gene and multifactorial transmission model using likelihood-ratio chi-square tests.

Localisation of a gene implicated in a severe speech and language disorder

A genome-wide search for linkage in the KE family is initiated and a region on chromosome 7 which co-segregates with the speech and language disorder is identified, confirming autosomal dominant inheritance with full penetrance.

Neural basis of an inherited speech and language disorder.

The genetic mutation or deletion in this region has resulted in the abnormal development of several brain areas that appear to be critical for both orofacial movements and sequential articulation, leading to marked disruption of speech and expressive language.

A forkhead-domain gene is mutated in a severe speech and language disorder

It is suggested that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is involved in the developmental process that culminates in speech and language.

Familial aggregation in specific language impairment.

Families of impaired children reported higher rates of affected first-degree relatives than did families of matched controls, and significantly higher incidence of maternal and paternal childhood language and/or learning disabilities, as well as sibling disability rates.



Familial aggregation of a developmental language disorder

The causes of specific developmental language disorder ("development dysphasia").

  • D. Bishop
  • Psychology, Medicine
    Journal of child psychology and psychiatry, and allied disciplines
  • 1987
There is seldom any evidence for acquired brain damage in the medical histories of language-disordered children, and studies using more direct techniques to investigate neurological status have yielded contradictory results.


It is suggested that children with verbal SMR disorder may have a generalized motor disorder which affects performance of both single gestures and sequences of gestures.

Feature-blind grammar and dysphasia

Norrell. "An Extended Family with a Dominantly Inherited Speech Disorder.

  • Developmental Medicine and Child Neurology
  • 1990

Genetic basis of grammar defect

Speech and language defects

Limb and oral Draxic abilities

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Crago . " Familial Aggregation of a Developmental Language Disorder

    Passingham . " Speech and language defects

    • 1990