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Zpráva o onemocněních · Neurological

FOXP2-Related Speech and Language Disorder

Whole genome sequencing reads the FOXP2 gene for the changes that cause a speech and language disorder in which children have difficulty planning and coordinating the movements needed for speech.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

An inherited speech condition in which children have difficulty planning and coordinating the movements needed for speech (childhood apraxia of speech), with language difficulties. It is caused by changes in one copy of FOXP2.

FOXP2-related speech and language disorder affects how children learn to produce and understand speech, beginning in early childhood. Its core feature is childhood apraxia of speech, a difficulty planning and sequencing the movements needed to say sounds, syllables and words. Language, reading, spelling and fine motor skills can also be affected, while nonverbal ability is typically relatively preserved.

It is caused by changes in one copy of FOXP2, a gene that makes a transcription factor, a protein that controls the activity of other genes. FOXP2 is important for brain circuits involved in speech. Some people have deletions of the whole or part of the gene, or chromosome rearrangements involving the region 7q31, which can also cause the disorder.

It is inherited in an autosomal dominant way. About half of people have a new change, and parental testing is offered when the change appears new. Each child of an affected parent has a 1 in 2 chance of inheriting the change. The main support is speech and language therapy, with educational support, and mental health input when anxiety or depression arise.

Onemocnění, které analyzujeme

Autozomálně dominantní

Caused by loss of function of one copy of FOXP2, a transcription factor important for brain circuits involved in speech. It can be inherited or arise de novo.

Příznaky a projevy

Childhood apraxia of speech, with difficulty producing and sequencing speech sounds, is the main feature, often with expressive and receptive language difficulties. Fine motor difficulties are also reported. Some people also have learning difficulties or autistic features.

Co se diagnózou změní

Speech and language therapy and educational support. Genetic counselling covers the 50% chance of passing the change on and parental testing when it appears new.

Analyzované geny

Známé také jako

dysphasia

Zahrnuje 2 příbuzných podtypů ↓
  • childhood apraxia of speech
  • familial developmental dysphasia
MONDO:0016226Orphanet 211053MedGen 1631585Zdroje: [1][2][3]

Proč sekvenování celého genomu

FOXP2-related speech and language disorder is dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it.

Therapy is the main support

Speech-language pathologists tailor support, and may use nonverbal support or alternative means of communication where needed. Occupational therapy helps with fine motor difficulties.

Parental testing and recurrence

Genetic counselling covers the 1 in 2 chance of passing the change on. Parental testing is offered when the change appears new, which is the case for about half of people with the disorder.

Omezení

  • FOXP2-related disorder can also be caused by whole- or partial-gene deletions, and by chromosomal rearrangements involving 7q31.

Reference

  1. Morgan A, Fisher SE, Scheffer I, Hildebrand M, 2016. FOXP2-Related Speech and Language Disorder. GeneReviews
  2. FOXP2-related speech and language disorder. MedlinePlus Genetics
  3. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP, 2001. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature

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