SYNGAP1-related intellectual disability
Senast uppdaterad 1 mars 2023
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
SYNGAP1-related intellectual disability is a neurological disorder characterised by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterised by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder.
Beskrivning
SYNGAP1-related intellectual disability is a neurological disorder characterised by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterised by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Mental retardation, autosomal dominant 5
MRD5
Related patient information and medicines
Patient information leaflet
Cerebral pares
It is caused by brain injury or abnormal development of the brain that occurs while a child's brain is still developing. What is cerebral palsy. Cerebral palsy is a name for a group of life-long conditions that have problems with muscle function and control. Most people think of cerebra... Some people with cerebral palsy also have other problems.
Patient information leaflet
För tidigt födda barn
...cerebral palsy, blindness or deafnessOne study of 241 children born before 26 weeks of gestation found: 1 in 5 had severe disability (for example, cerebral pares + not walking, low cognitive scores, blindness, profound deafness). 1 in 4 had moderate disability (for example, cerebral pares + walking, IQ/cognitive scores in the special needs.
Patient information leaflet
Cri du chat-syndrom
Cri du chat-syndrom is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. However, most people with cri du chat syndrome survive well into adulthood. About 1 in 10 babies born with cri du chat syndrome are severely.
Patient information leaflet
Dyslexi
Dyslexia is common. It is usually first noticed during the first few years at school. What is dyslexia. Dyslexia is a specific learning difficulty that causes problems with reading, writing and spelling. Dyslexia is a lifelong problem but help and support is available to help improve reading and writing skills and achieve success at school and at.
Patient information leaflet
Jodbrist
How common is iodine deficiency. Underactive thyroid gland due to iodine deficiency from birth (congenital hypothyroidism) is the most common preventable cause of severe learning disability in the world. There has been a worldwide use of salt with added iodine (iodized salt) since the 1990s. Because there are still some countries with widespread.
Patient information leaflet
Downs syndrom
Downs syndrom (also known as Down syndrome) is a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body. All people with Down's syndrome have some degree of learning disability. It cannot be cured but treatment... A number of advice and support groups are tillgänglig for people with.
Vidare läsning och referenser
- SYNGAP1-related intellectual disability; MedlinePlus, National Library of Medicine.
- Aceti M, Creson TK, Vaissiere T, Rojas C, Huang WC, Wang YX, Petralia RS, Page DT, Miller CA, Rumbaugh G. Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly. Biol Psychiatry. 2015 May 1;77(9):805-15. doi: 10.1016/j.biopsych.2014.08.001. Epub 2014 Aug 13.
- Clement JP, Aceti M, Creson TK, Ozkan ED, Shi Y, Reish NJ, Almonte AG, Miller BH, Wiltgen BJ, Miller CA, Xu X, Rumbaugh G. Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. Cell. 2012 Nov 9;151(4):709-723. doi: 10.1016/j.cell.2012.08.045.
- Clement JP, Ozkan ED, Aceti M, Miller CA, Rumbaugh G. SYNGAP1 links the maturation rate of excitatory synapses to the duration of critical-period synaptic plasticity. J Neurosci. 2013 Jun 19;33(25):10447-52. doi: 10.1523/JNEUROSCI.0765-13.2013.
- Mignot C, von Stulpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybala M, Yis U, Caglayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hortnagel K, Biskup S; EuroEPINOMICS-RES MAE working group; Lemke JR, Heron D, Kluger G, Depienne C. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17.
- Ozkan ED, Creson TK, Kramar EA, Rojas C, Seese RR, Babyan AH, Shi Y, Lucero R, Xu X, Noebels JL, Miller CA, Lynch G, Rumbaugh G. Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons. Neuron. 2014 Jun 18;82(6):1317-33. doi: 10.1016/j.neuron.2014.05.015.
- Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, Mohammed S, Vasudevan PC, Park SM, Benoit V, Lederer D, Maystadt I, Study D, FitzPatrick DR. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. Am J Med Genet A. 2015 Oct;167A(10):2231-7. doi: 10.1002/ajmg.a.37189. Epub 2015 Jun 15.
- Wang CC, Held RG, Hall BJ. SynGAP regulates protein synthesis and homeostatic synaptic plasticity in developing cortical networks. PLoS One. 2013 Dec 31;8(12):e83941. doi: 10.1371/journal.pone.0083941. eCollection 2013.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
1 mars 2023 | Senaste versionen
1 May 2016 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.