Ugrás a tartalomhoz
Használja fel HSA- vagy FSA-keretét

Betegségjelentés · 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.

A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.

A Premium és a Premium + AI csomagban benne van

A Premium első évre készletenként 99 $ díjjal jár.

Rendelés Premium csomaggal

A(z) condition ismertetése

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.

A vizsgált betegség

Autoszomális domináns

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.

Tünetek és jelek

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.

Mit változtat a diagnózis

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.

Vizsgált gének

Más néven

dysphasia

2 kapcsolódó altípust tartalmaz ↓
  • childhood apraxia of speech
  • familial developmental dysphasia
MONDO:0016226Orphanet 211053MedGen 1631585Források: [1][2][3]

Miért a teljes genom szekvenálás

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.

Korlátok

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

Hivatkozások

  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

További neurological conditions

Minden feltétel →

Egy teszt. Egy életen át tartó válaszok.

Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

449 $-tól

Ingyenes szállítás · Eredmények 6–8 hét alatt

A Premium első évre készletenként 99 $ díjjal jár.

Rendelés Premium csomaggal