MCID: DYS182
MIFTS: 38

Dysphasia, Familial Developmental

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Dysphasia, Familial Developmental

MalaCards integrated aliases for Dysphasia, Familial Developmental:

Name: Dysphasia, Familial Developmental 57 71
Specific Language Impairment 19 71 33
Developmental Language Disorder 19 33
Developmental Dysphasia or Aphasia, Expressive Type 33
Developmental Dysphasia or Aphasia, Receptive Type 33
Mixed Receptive and Expressive Language Disorder 33
Developmental Expressive Language Disorder 33
Developmental Receptive Language Disorder 33
Social Pragmatic Communication Disorder 33
Mixed Receptive Language Disorder 33
Developmental Dysphasia Familial 19
Familial Developmental Dysphasia 58
Billard-Toutain-Maheut Syndrome 58
Language Development Disorders 71
Language Development Disorder 33
Social Communication Disorder 33
Language Learning Impairment 33
Receptive Language Disorder 33
Foxp2-Associated Dysphasia 58

Characteristics:


Inheritance:

Dysphasia, Familial Developmental: Autosomal dominant 57
Familial Developmental Dysphasia: Autosomal dominant 58

Prevelance:

Familial Developmental Dysphasia: <1/1000000 (Worldwide) 58

Age Of Onset:

Familial Developmental Dysphasia: Childhood 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 600117
ICD10 via Orphanet 32 F80.1
UMLS via Orphanet 72 C1838630
Orphanet 58 ORPHA1799
MedGen 40 C1838630
SNOMED-CT via HPO 69 229734008 87486003
UMLS 71 C0023014 C0454651 C1838630

Summaries for Dysphasia, Familial Developmental

GARD: 19 Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the consequence of an evident brain lesion or as a result of the child's social environment. Familial cases of developmental dyphasia have been described. In these families, the condition is inherited in an autosomal dominant fashion.

MalaCards based summary: Dysphasia, Familial Developmental, also known as specific language impairment, is related to specific language impairment and specific language impairment 5. The drugs Memantine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and temporal lobe, and related phenotypes are expressive language delay and incomprehensible speech

Orphanet: 58 Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by 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.

More information from OMIM: 600117

Related Diseases for Dysphasia, Familial Developmental

Diseases related to Dysphasia, Familial Developmental via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 specific language impairment 11.9
2 specific language impairment 5 11.8
3 specific language impairment 1 11.8
4 specific language impairment 4 11.7
5 specific language impairment 2 11.7
6 specific language impairment 3 11.7
7 mixed receptive-expressive language disorder 11.4
8 expressive language disorder 11.1
9 speech and communication disorders 10.8
10 autism 10.8
11 autism spectrum disorder 10.8
12 reading disorder 10.7
13 dyslexia 10.6
14 carnitine deficiency, systemic primary 10.5
15 attention deficit-hyperactivity disorder 10.5
16 ceroid lipofuscinosis, neuronal, 5 10.5
17 down syndrome 10.4
18 cerebellar atrophy, developmental delay, and seizures 10.4
19 learning disability 10.4
20 developmental coordination disorder 10.3
21 hand skill, relative 10.3
22 cognitive function 1, social 10.3
23 speech disorder 10.3
24 age-related hearing loss 10.3
25 stuttering 10.2
26 severe early-childhood-onset retinal dystrophy 10.2
27 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
28 asperger syndrome 10.2
29 pervasive developmental disorder 10.2
30 aphasia 10.2
31 apraxia 10.2
32 turner syndrome 10.2
33 agnosia 10.2
34 children's interstitial lung disease 10.2
35 specific language disorder 10.2
36 floating-harbor syndrome 10.1
37 late-onset retinal degeneration 10.1
38 lymphatic malformation 7 10.1
39 conduct disorder 10.1
40 williams-beuren syndrome 10.1
41 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.1
42 cavitary optic disc anomalies 10.1
43 autism 16 10.1
44 alacrima, achalasia, and mental retardation syndrome 10.1
45 tatton-brown-rahman syndrome 10.1
46 47 xxx syndrome 10.1
47 superior semicircular canal dehiscence 9.9
48 ring chromosome 9.9
49 adult syndrome 9.9
50 amyloidosis, hereditary, transthyretin-related 9.9

Graphical network of the top 20 diseases related to Dysphasia, Familial Developmental:



Diseases related to Dysphasia, Familial Developmental

Symptoms & Phenotypes for Dysphasia, Familial Developmental

Human phenotypes related to Dysphasia, Familial Developmental:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 expressive language delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002474
2 incomprehensible speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002546
3 aphasia 30 Hallmark (90%) HP:0002381
4 dysphasia 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neuro:
developmental dysphasia
specific severe delayed spoken language development

Clinical features from OMIM®:

600117 (Updated 24-Oct-2022)

Drugs & Therapeutics for Dysphasia, Familial Developmental

Drugs for Dysphasia, Familial Developmental (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 3 41100-52-1, 19982-08-2 4054
2
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
3 Excitatory Amino Acid Antagonists Phase 3
4 Antiparkinson Agents Phase 3
5 Dopamine Agents Phase 3
6 Neurotransmitter Agents Phase 3
7
Silver sulfadiazine Approved, Vet_approved Early Phase 1 22199-08-2 441244
8 Vitamins
9 Complement System Proteins

Interventional clinical trials:

(show top 50) (show all 64)
# Name Status NCT ID Phase Drugs
1 Effectiveness of a Parent-Based Language Intervention Group Program for Two-Year-Old Children With Language Delay Unknown status NCT00625261 Phase 3
2 Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions: A Randomized-controlled Trial Recruiting NCT03553875 Phase 3 Memantine Hydrochloride;Placebo
3 Building Complex Language: Effect of Treatment and Dosage Completed NCT01337232 Phase 1, Phase 2
4 Safety/Efficacy of Intranasally-Administered Bioactive Factors Produced by M2 Type Macrophages in Children With Developmental Speech Disorders Completed NCT04689282 Phase 1, Phase 2
5 Maximizing Outcomes for Preschoolers With Developmental Language Disorder: Testing the Effects of a Sequentially Targeted Naturalistic Intervention. Recruiting NCT03782493 Phase 2
6 An RCT of a Low-Intensity Intervention to Reduce Delay Unknown status NCT00110292 Phase 1
7 Coding and Memorisation of Phonologic Information Among Preschool and School Children With Oral Language Developement Disorder. Unknown status NCT02609542
8 Effectiveness of the WHO Caregivers Skills Training (CST) Program for Children With Developmental Disorders and Delays in Rural Community Settings in Pakistan: An Individual Randomized Controlled Trial (RCT) Unknown status NCT04255472
9 Bridging Connections: A Language Intervention Study of Preterm Infants in the NICU Unknown status NCT03688386
10 Interactive Book Reading to Accelerate Word Learning by Children With SLI Completed NCT01829360
11 Specific Language Impairment (SLI) in Children May Caused by Epileptic Brain Activity Completed NCT04141332
12 Evaluating Treatment Efficacy of Two Syntactic Treatment Procedures for Children With Specific Language Impairment (SLI): A Randomized Controlled Trial Completed NCT01765348
13 Strategies for Teaching Verbs Completed NCT03441685
14 Promoting Early School Readiness in Primary Health Care Completed NCT00212576
15 Manipulating Linguistic Complexity to Improve Child Language Treatment Outcomes Completed NCT03977701
16 The Indonesian Version of Ages and Stages Questionnaire III Accuracy Compared to Bayley Scales of Infant Development III Completed NCT05408351
17 Age-related Correlates of Treatment Efficacy and Efficiency for Late-acquired Sounds Completed NCT03663972
18 Effect of Providing Speech Therapy Awareness in Private Schools Completed NCT04505696
19 Developmental Intervention for Infants of Adolescent Mothers Completed NCT03547492
20 Long-term Use Benefits of Personal Frequency-modulated Systems for Speech in Noise Perception in Stroke Patients With Auditory Processing Deficits- 'a Non-randomised Completed NCT02889107
21 Validity and Reliability of Indonesian Translated Ages and Stages Questionnaires - Third Edition (ASQ-3) as a Screening Tool for Developmental Delay in 1-12 Months Old Children Completed NCT05398900
22 Pilot Study: The Effectiveness of Computerized Auditory Training Programme on Children With Auditory Processing Disorder Completed NCT02111343
23 Central Auditory Processing Disorders Associated With Blast Exposure Completed NCT00554801
24 Evaluating the Impact of a Common Elements-based Intervention to Improve Maternal Psychological Well-being and Mother-infant Interaction in a Low Resource Community Setting of Rural Pakistan Completed NCT04252807
25 Cochlear Implantation in Single Sided Deafness and Asymmetrical Hearing Loss: a Cost/Utility Study. Completed NCT02204618
26 Pivotal Response Treatment for Individuals With Intellectual Disabilities Completed NCT01988623
27 Experimental Word Learning in Children With Normal Development and Children With Language Impairment Completed NCT00607334
28 Evaluation of the Central Auditory Processing in Patients (Elder Than 45 Years Old) With Bilateral Sensorineural Hearing Loss and the Change of the Central Auditory Processing Ability by the Use of Hearing Aids (CAPHA) Completed NCT01897181
29 Efficacy of the Direct Instruction Language for Learning Program to Promote Expressive and Receptive Language in Children With Autism Spectrum Disorder Completed NCT02483910
30 Is There a Higher Prevalence of Autistic Spectrum Disorder (ASD) in Children With Haemophilia (Aged 5-16) Than the General Population? Completed NCT05138224
31 A Developmental Framework For Linking Phonological and Morphosyntactic Sequential Pattern Rules in Developmental Language Disorder Recruiting NCT04996472
32 A Developmental Framework For Linking Phonological and Morphosyntactic Sequential Pattern Rules in Developmental Language Disorder Recruiting NCT04531514
33 Retrieval-Based Word Learning in Developmental Language Disorder Recruiting NCT05325333
34 A Developmental Framework For Linking Phonological And Morpho-syntactic Sequential Pattern Rules In Developmental Language Disorder: Production Recruiting NCT04558541 Early Phase 1
35 Searching of Apraxia of Speech in Children With Specific Language Impairment Recruiting NCT05584033
36 Efficiency of Speech and Language Intervention on Achievement of Children With Developmental Language Disorder Recruiting NCT04926311
37 Assessment and Rehabilitation of Narrative Language in Children With Hearing Impairment and Developmental Language Disorder Recruiting NCT05445687
38 Randomized Control Reading Intervention to Children With Developmental Language Disorder Recruiting NCT05295472
39 The Influence of Immersive Virtual Field Trips on Academic Vocabulary for Early Elementary Students With Developmental Language Disorder Recruiting NCT05242575
40 Evaluation of an Explicit Approach to Teach Grammatical Forms to Children With Language Impairment Recruiting NCT04902508
41 Recasting and Book Reading Under Ideal (Dose-controlled) and Typical (Dose-variable) Conditions: The Role of Fidelity and Adherence in Production and Comprehension Outcomes for Children With DLD Recruiting NCT05099328
42 Neuroimaging Reveals Treatment-related Changes in DLD Recruiting NCT05268341
43 Interactive Book Reading to Accelerate Word Learning by Children With SLI Recruiting NCT03586479
44 Improving STEM Outcomes for Young Children With Language Learning Disabilities by Intervening at the Intersection of Language and Scientific Thought: A Telehealth RCT Recruiting NCT04775199
45 Parent-Level Predictors of Early Language Interaction Quality and Intervention Outcomes Recruiting NCT03525951
46 EMT en Español: Comprehensive Early Intervention to Support School Readiness Skills for Spanish-speaking Toddlers With Language Delays Recruiting NCT04066049
47 Evaluation of an Early Support Programme in Orthophony : the PAPEV-ortho Study Recruiting NCT04384328
48 Development of an Arabic Central Auditory Processing Remediation Program for Dyslexic Children With(Central) Auditory Processing Disorder Recruiting NCT04708899
49 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism Recruiting NCT04100863
50 Early UVFP Management Based on Neurological Evidences (UVFP = Unilateral Vocal Fold Paralysis) (ION-UVFP) - Preliminary Study Recruiting NCT03966183

Search NIH Clinical Center for Dysphasia, Familial Developmental

Genetic Tests for Dysphasia, Familial Developmental

Anatomical Context for Dysphasia, Familial Developmental

Organs/tissues related to Dysphasia, Familial Developmental:

MalaCards : Brain, Eye, Temporal Lobe, Cortex, Thalamus, Cerebellum, Heart

Publications for Dysphasia, Familial Developmental

Articles related to Dysphasia, Familial Developmental:

(show top 50) (show all 2395)
# Title Authors PMID Year
1
An extended family with a dominantly inherited speech disorder. 57
2332125 1990
2
Feature-blind grammar and dysphagia. 57
2330028 1990
3
Language disabilities in three twin pairs and their relatives. 57
4050301 1985
4
Social-Emotional and Behavioural Difficulties in Children with Neurodevelopmental Disorders: Emotion Perception in Daily Life and in a Formal Assessment Context. 62
36184695 2022
5
When Developmental Language Disorder Meets Diglossia: A Cross-Sectional Investigation of Listening Comprehension Among Native Arabic-Speaking Preschoolers. 62
35538272 2022
6
Investigating Narrative Performance in Children With Developmental Language Disorder: A Systematic Review and Meta-Analysis. 62
36179252 2022
7
Sharpening Our Tools: A Systematic Review to Identify Diagnostically Accurate Language Sample Measures. 62
36174208 2022
8
Phonological Working Memory and Sentence Production in School-Age Children with Typical Language, Dyslexia, and Comorbid Dyslexia and Developmental Language Disorder. 62
36259454 2022
9
A systematic scoping review on contextual factors associated with communicative participation among children with developmental language disorder. 62
36239148 2022
10
Prediction Cannot Be Directly Trained: An Extension to Jones and Westermann (2021). 62
36167076 2022
11
Atypical phonological processes in naming errors of children with language impairment. 62
36214077 2022
12
An Investigation of Developmental Coordination Disorder Characteristics in Children With Childhood Apraxia of Speech. 62
36041512 2022
13
What happens in the brain? 62
36164823 2022
14
Quantitative MRI reveals differences in striatal myelin in children with DLD. 62
36164824 2022
15
Speech, language and communication needs and mental health: the experiences of speech and language therapists and mental health professionals. 62
36117337 2022
16
SPICES: Disclosure Practices to Help Caregivers Digest a Diagnosis of Developmental Language Disorder. 62
36007195 2022
17
Are items actively removed from working memory during free time in children with developmental language disorder? 62
35611864 2022
18
The impact of developmental language disorder in a defendant's description on mock jurors' perceptions and judgements. 62
36087284 2022
19
Editorial Perspective: Maximising the benefits of intervention research for children and young people with developmental language disorder (DLD) - a call for international consensus on standards of reporting in intervention studies for children with and at risk for DLD. 62
36127873 2022
20
[Early detection of primary developmental language disorders-increasing relevance due to changes in diagnostic criteria?] 62
35861864 2022
21
Disentangling Language Disorder and Bilingualism in Children with Developmental Language Disorder and Autism Spectrum Disorder: Evidence from Writing. 62
36087157 2022
22
Moment-to-Moment Processing of Complex Sentences by Adults with and without Developmental Language Disorder. 62
36029614 2022
23
Teaching foreign language grammar to primary-school children with developmental language disorder: A classroom-based intervention study. 62
36191574 2022
24
Prevalence and functional impact of social (pragmatic) communication disorders. 62
36114685 2022
25
Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease. 62
35349645 2022
26
Use of Aspect Markers by Mandarin-speaking Children with High-Functioning Autism Plus Language Impairment and Children with Developmental Language Disorder. 62
35839538 2022
27
Adversity Exposure, Syntax, and Specific Language Impairment: An Exploratory Study. 62
35973108 2022
28
Auditory Processing in Children with Specific Language Impairment: A FFR Based Study. 62
36032839 2022
29
Social Cognition in Adolescents with Developmental Language Disorder (DLD): Evidence from the Social Attribution Task. 62
35971042 2022
30
Gesture-speech integration is related to vocabulary skills in children with developmental language disorder, Williams syndrome and typical development. 62
36036738 2022
31
Eye-tracking training improves the learning and memory of children with learning difficulty. 62
35977994 2022
32
Increased prevalence of minor physical anomalies in patients with epilepsy. 62
35962048 2022
33
Educators' Perceptions of Barriers and Facilitators to the Implementation of Screeners for Developmental Language Disorder and Dyslexia. 62
36250042 2022
34
Effectiveness of cloud-based rehabilitation in children with developmental language disorder during the COVID-19 pandemic: A prospective cohort study. 62
35984120 2022
35
Contributions of early motor deficits in predicting language outcomes among preschoolers with developmental language disorder. 62
34793281 2022
36
The prevalence of and potential risk factors for Developmental Language Disorder at 10 years in the Raine Study. 62
35922883 2022
37
[The profile of reading and cognitive skills of children with a history of specific developmental language disorder]. 62
36041402 2022
38
Editorial Perspective: Speaking up for developmental language disorder - the top 10 priorities for research. 62
35365906 2022
39
An Implicit-Explicit Framework for Intervention Methods in Developmental Language Disorder. 62
35446629 2022
40
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. 62
34321324 2022
41
Peer Effects in Language Therapy for Preschoolers With Developmental Language Disorder: A Pilot Study. 62
35452261 2022
42
Individual and cumulative risk factors in developmental language disorder: A case-control study. 62
35797616 2022
43
Predictors of school concern across the transition to secondary school with developmental language disorder and low language ability: A longitudinal developmental cascade analysis. 62
35841340 2022
44
Effectiveness of intervention focused on vocational course vocabulary in post-16 students with (developmental) language disorder. 62
35859265 2022
45
Description and prediction of reading decoding skills in Swedish children with Developmental Language Disorder. 62
33140677 2022
46
Early Neuro-Psychomotor Therapy Intervention for Theory of Mind and Emotion Recognition in Neurodevelopmental Disorders: A Pilot Study. 62
36010032 2022
47
Using co-design to develop a tool for shared goal-setting with parents in speech and language therapy. 62
35859264 2022
48
Identifying Language Disorder in Bilingual Children Using Automatic Speech Recognition. 62
35858259 2022
49
Language acquisition and speech rhythm patterns: an auditory neuroscience perspective. 62
35911192 2022
50
Efficacy, model of delivery, intensity and targets of pragmatic interventions for children with developmental language disorder: A systematic review. 62
35445482 2022

Variations for Dysphasia, Familial Developmental

Expression for Dysphasia, Familial Developmental

Search GEO for disease gene expression data for Dysphasia, Familial Developmental.

Pathways for Dysphasia, Familial Developmental

GO Terms for Dysphasia, Familial Developmental

Sources for Dysphasia, Familial Developmental

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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