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Familial developmental dysphasia

MedGen UID:: 374015
•Concept ID:: C1838630
•: Disease or Syndrome

Synonym:	Dysphasia, Familial Developmental
SNOMED CT:	Familial developmental dysphasia (721220004); Billard Toutain Maheut syndrome (721220004)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0010821
OMIM®:	600117
Orphanet:	ORPHA1799

Definition

A severe form of developmental verbal apraxia with characteristics of a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters and comprehension delay. Hearing and intelligence are normal. Inheritance is autosomal dominant with full penetrance. [from SNOMEDCT_US]

Clinical features

From HPO

Aphasia

MedGen UID:: 8159
•Concept ID:: C0003537
•: Mental or Behavioral Dysfunction

An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.

See: Feature record | Search on this feature

Expressive language delay

MedGen UID:: 141568
•Concept ID:: C0454641
•: Disease or Syndrome

A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.

See: Feature record | Search on this feature

Abnormality of the nervous system
- Aphasia
- Expressive language delay

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial developmental dysphasia

Clinical finding
- Finding by Cause
  - Adverse Event
    - CTCAE by Body System
      - Nervous System Disorders, CTCAE
        Specific language disorder
        Familial developmental dysphasia

Follow this link to review classifications for Familial developmental dysphasia in Orphanet.

Recent clinical studies

Etiology

Neuropathological fingerprints of survival, atrophy and language in primary progressive aphasia.

Mesulam MM, Coventry CA, Bigio EH, Sridhar J, Gill N, Fought AJ, Zhang H, Thompson CK, Geula C, Gefen T, Flanagan M, Mao Q, Weintraub S, Rogalski EJ
Brain 2022 Jun 30;145(6):2133-2148. doi: 10.1093/brain/awab410. PMID: 35441216 Free PMC Article

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.

Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS
Epilepsia 2017 Mar;58(3):e40-e43. Epub 2017 Jan 18 doi: 10.1111/epi.13666. PMID: 28098945

GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC
Nat Genet 2013 Sep;45(9):1073-6. Epub 2013 Aug 11 doi: 10.1038/ng.2727. PMID: 23933818 Free PMC Article

The development of oral motor control and language.

Alcock K
Downs Syndr Res Pract 2006 Aug;11(1):1-8. doi: 10.3104/reports.310. PMID: 17048804

Families of autistic and dysphasic children. II. Mothers' speech to the children.

Cantwell DP, Baker L, Rutter M
J Autism Child Schizophr 1977 Dec;7(4):313-27. doi: 10.1007/BF01540390. PMID: 599134

See all (10)

Diagnosis

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.

Bousquet I, Bozon M, Castellani V, Touraine R, Piton A, Gérard B, Guibaud L, Sanlaville D, Edery P, Saugier-Veber P, Putoux A
Neurogenetics 2021 Mar;22(1):43-51. Epub 2021 Jan 7 doi: 10.1007/s10048-020-00629-y. PMID: 33415589

Optic disc coloboma in two nigerian siblings: Case report and review of literature.

Babalola YO, Olawoye OO, Idam PO
Niger J Clin Pract 2017 Nov;20(11):1505-1509. doi: 10.4103/njcp.njcp_412_16. PMID: 29303140

GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

Familial aggregation of a developmental language disorder.

Gopnik M, Crago MB
Cognition 1991 Apr;39(1):1-50. doi: 10.1016/0010-0277(91)90058-c. PMID: 1934976

The syndrome of autism: a critical review.

Ornitz EM, Ritvo ER
Am J Psychiatry 1976 Jun;133(6):609-21. doi: 10.1176/ajp.133.6.609. PMID: 58560

See all (22)

Therapy

A multi-disciplinary clinic for SCN8A-related epilepsy.

Schreiber JM, Tochen L, Brown M, Evans S, Ball LJ, Bumbut A, Thewamit R, Whitehead MT, Black C, Boutzoukas E, Fanto E, Suslovic W, Berl M, Hammer M, Gaillard WD
Epilepsy Res 2020 Jan;159:106261. Epub 2019 Dec 23 doi: 10.1016/j.eplepsyres.2019.106261. PMID: 31887642

Posterior fossa syndrome after posterior fossa surgery in children with brain tumors.

Küpeli S, Yalçın B, Bilginer B, Akalan N, Haksal P, Büyükpamukçu M
Pediatr Blood Cancer 2011 Feb;56(2):206-10. Epub 2010 Oct 25 doi: 10.1002/pbc.22730. PMID: 21157890

See all (2)

Prognosis

Neuropathological fingerprints of survival, atrophy and language in primary progressive aphasia.

Familial language network vulnerability in primary progressive aphasia.

Weintraub S, Rader B, Coventry C, Sridhar J, Wood J, Guillaume KA, Coppola G, Ramos EM, Bonakdarpour B, Rogalski EJ, Mesulam MM
Neurology 2020 Aug 18;95(7):e847-e855. Epub 2020 Jul 22 doi: 10.1212/WNL.0000000000009842. PMID: 32699140 Free PMC Article

Posterior fossa syndrome after posterior fossa surgery in children with brain tumors.

Küpeli S, Yalçın B, Bilginer B, Akalan N, Haksal P, Büyükpamukçu M
Pediatr Blood Cancer 2011 Feb;56(2):206-10. Epub 2010 Oct 25 doi: 10.1002/pbc.22730. PMID: 21157890

The syndrome of autism: a critical review.

Ornitz EM, Ritvo ER
Am J Psychiatry 1976 Jun;133(6):609-21. doi: 10.1176/ajp.133.6.609. PMID: 58560

Childhood autism. A review of the clinical and experimental literature.

Ornitz EM
Calif Med 1973 Apr;118(4):21-47. PMID: 4120820 Free PMC Article

See all (8)

Clinical prediction guides

Neuropathological fingerprints of survival, atrophy and language in primary progressive aphasia.

Familial language network vulnerability in primary progressive aphasia.

A multi-disciplinary clinic for SCN8A-related epilepsy.

Familial epilepsy and developmental dysphasia: description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci.

Michelucci R, Scudellaro E, Testoni S, Passarelli D, Riguzzi P, Diani E, Vazza G, Vianello V, Scabar A, Mostacciuolo ML, Volpi L, Rubboli G, Pinardi F, Mancardi MM, Tassinari CA, Nobile C
Epilepsy Res 2008 Jul;80(1):9-17. Epub 2008 May 27 doi: 10.1016/j.eplepsyres.2008.03.014. PMID: 18508238

Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras.

Kobayashi E, Santos NF, Torres FR, Secolin R, Sardinha LA, Lopez-Cendes I, Cendes F
Arch Neurol 2003 Nov;60(11):1546-51. doi: 10.1001/archneur.60.11.1546. PMID: 14623726

See all (10)

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Familial developmental dysphasia

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Table of contents

Clinical resources

Practice guidelines

Molecular resources

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Reviews

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