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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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial 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: 35441216Free 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: 23933818Free 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

Diagnosis

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: 35441216Free PMC Article
Developmental delay: an ambiguous term in need of change.
Grech LB
Arch Dis Child 2021 Apr;106(4):410-412. Epub 2019 Sep 12 doi: 10.1136/archdischild-2019-317522. PMID: 31515202
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
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: 23933818Free PMC Article
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

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

Prognosis

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: 35441216Free PMC Article
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: 32699140Free 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: 4120820Free PMC Article

Clinical prediction guides

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: 35441216Free PMC Article
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: 32699140Free PMC Article
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
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
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27.
Auranen M, Vanhala R, Varilo T, Ayers K, Kempas E, Ylisaukko-Oja T, Sinsheimer JS, Peltonen L, Järvelä I
Am J Hum Genet 2002 Oct;71(4):777-90. Epub 2002 Aug 21 doi: 10.1086/342720. PMID: 12192642Free PMC Article

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