Jump to content

Syndromic autism: Difference between revisions

Add links
From Wikipedia, the free encyclopedia
Browse history interactively
Next edit →
Content deleted Content added
VisualWikitext
←Created page with ' {| class="wikitable sortable" |+ Characteristics of syndromic ASD conditions |- ! Condition !! Cause !! Chromosome(s) involved (if a mutation) !! ASD prevalence (95% CI) !! Clinically/Molecularly defined || Other characteristics !! {{refh}} |- | Fragile X syndrome || '''Monogenic disorder''':<br>FMR1 (encodes FMRP) || X ||  30% (20.0–31.0) <sub>[male individuals only]</sub><br>  22% (15.0–30.0) <sub>[...'
 
{{Main|Autism_spectrum}} split because very long
Line 1: Line 1:
{{Main|Autism_spectrum}}

{| class="wikitable sortable"
{| class="wikitable sortable"
|+ Characteristics of syndromic ASD conditions
|+ Characteristics of syndromic ASD conditions

Revision as of 18:36, 10 June 2023

Main article: Autism_spectrum
Characteristics of syndromic ASD conditions
Condition Cause Chromosome(s) involved (if a mutation) ASD prevalence (95% CI) Clinically/Molecularly defined Other characteristics Ref.
Fragile X syndrome Monogenic disorder:
FMR1 (encodes FMRP)		 X  30% (20.0–31.0) [male individuals only]
 22% (15.0–30.0) [mixed sex]
14% (13–18) [female individuals only]		 Clinically defined [in some males] Long/narrow face, macroorchidism, long ears and philtrum, mild to moderate intellectual disability, hyperactivity, intellectual disability (ID), seizures [1][2][3][4]
Rett syndrome Monogenic disorder:
MECP2		 X 61.0% (46.0–74.0) [female individuals only] Clinically defined Microcephaly, breathing irregularities, language deficits, repetitive/stereotyped hand movements, epilepsy, ID [1][2][3]
MECP2 duplication syndrome Monogenic disorder:
MECP2		 X 100% [in a single study composed by 9 male participants] Clinically defined Brachycephaly, spasticity, recurrent respiratory infections, gastrointestinal hypermotility, genitourinary abnormalities, epilepsy, ID [1][3][5]
Tuberous sclerosis complex Monogenic disorder:
TSC1
TSC2		 9
16		  36.0% (33.0–40.0) Clinically defined Benign tumours in multiple organs, epilepsy [1][2][3]
Angelman's syndrome Monogenic disorder:
UBE3A		 15  34.0% (24.0–37.0) Cheerful demeanour, microcephaly, epilepsy, speech deficits, sleep disturbance, epilepsy, ID [1][2]
Phelan-McDermid Syndrome Monogenic disorder:
SHANK3		 22  84% [in a single study composed by 32 participants] Molecularly defined [3][6]
Timothy syndrome Monogenic disorder:
CACNA1C		 12  80% [in a single study composed by 17 participants] Clinically defined [3][7]
Smith-Lemli-Opitz syndrome Monogenic disorder:
DHCR7		 11 55% [in a single study composed by 33 participants]] [8]
Neurofibromatosis type I Monogenic disorder:
NF1		 17  18% (9.0–29.0) Clinically defined [2][3]
PTEN hamartoma tumor syndrome Monogenic disorder:
PTEN		 10  17% (8–27) Clinically defined [3][9]
Down syndrome Chromosomal disorder:
trisomy 21		 21 16% (8.0–24.0) Clinically defined [2][3]
Cohen's syndrome Monogenic disorder:
VPS13B		 8  54% (44.0–64.0) Clinically defined [2][3]
Cornelia de Lange syndrome Polygenic disorder  43% (32.0–53.0) Clinically defined [2][3]
CHARGE syndrome Monogenic disorder:
CHD7		 8  28% (16–41) Clinically defined [3][10][11]
Noonan's syndrome Polygenic disorder  15% (7.0–26.0) [2]
William's syndrome Microdeletion syndrome:
7q11.23		 7  12% (6.0–20.0) [2][12]
22q11.2 deletion syndrome Microdeletion syndrome:
22q11.2		 22 11% (5.0–19.0) Clinically defined [2][3]
Fetal Valproate Spectrum Disorder Teratogen:
valproate		  8–15% [in VPA exposed children] Clinically defined [3][13][14]
  1. ^ a b c d e Benger, Matthew; Kinali, Maria; Mazarakis, Nicholas D. (December 2018). "Autism spectrum disorder: prospects for treatment using gene therapy". Molecular Autism. 9 (1): 39. doi:10.1186/s13229-018-0222-8. PMC 6011246. PMID 29951185. Retrieved 26 May 2023.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  2. ^ a b c d e f g h i j k Richards, Caroline; Jones, Christopher; Groves, Laura; Moss, Jo; Oliver, Chris (October 2015). "Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis". The Lancet Psychiatry. 2 (10): 909–916. doi:10.1016/S2215-0366(15)00376-4. PMID 26341300. Retrieved 27 May 2023.
  3. ^ a b c d e f g h i j k l m n Fernandez, Bridget A.; Scherer, Stephen W. (31 December 2017). "Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach". Dialogues in Clinical Neuroscience. 19 (4): 353–371. doi:10.31887/DCNS.2017.19.4/sscherer. PMC 5789213. PMID 29398931. Retrieved 4 June 2023.
  4. ^ Marlborough, M.; Welham, A.; Jones, C.; Reckless, S.; Moss, J. (December 2021). "Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence". Journal of Neurodevelopmental Disorders. 13 (1): 28. doi:10.1186/s11689-021-09362-5. PMC 8299695. PMID 34294028. Retrieved 30 May 2023.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  5. ^ Ramocki, Melissa B.; Peters, Sarika U.; Tavyev, Y. Jane; Zhang, Feng; Carvalho, Claudia M. B.; Schaaf, Christian P.; Richman, Ronald; Fang, Ping; Glaze, Daniel G.; Lupski, James R.; Zoghbi, Huda Y. (December 2009). "Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome". Annals of Neurology. 66 (6): 771–782. doi:10.1002/ana.21715. PMC 2801873. PMID 20035514. Retrieved 29 May 2023.
  6. ^ Soorya, Latha; Kolevzon, Alexander; Zweifach, Jessica; Lim, Teresa; Dobry, Yuriy; Schwartz, Lily; Frank, Yitzchak; Wang, A Ting; Cai, Guiqing; Parkhomenko, Elena; Halpern, Danielle; Grodberg, David; Angarita, Benjamin; Willner, Judith P; Yang, Amy; Canitano, Roberto; Chaplin, William; Betancur, Catalina; Buxbaum, Joseph D (December 2013). "Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency". Molecular Autism. 4 (1): 16. doi:10.1186/2040-2392-4-18. PMC 3707861. PMID 23758760. Retrieved 29 May 2023.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  7. ^ Splawski, Igor; Timothy, Katherine W.; Sharpe, Leah M.; Decher, Niels; Kumar, Pradeep; Bloise, Raffaella; Napolitano, Carlo; Schwartz, Peter J.; Joseph, Robert M.; Condouris, Karen; Tager-Flusberg, Helen; Priori, Silvia G.; Sanguinetti, Michael C.; Keating, Mark T. (October 2004). "CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism". Cell. 119 (1): 19–31. doi:10.1016/j.cell.2004.09.011. PMID 15454078. Retrieved 29 May 2023.
  8. ^ Thurm, Audrey; Tierney, Elaine; Farmer, Cristan; Albert, Phebe; Joseph, Lisa; Swedo, Susan; Bianconi, Simona; Bukelis, Irena; Wheeler, Courtney; Sarphare, Geeta; Lanham, Diane; Wassif, Christopher A.; Porter, Forbes D. (December 2016). "Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update". Journal of Neurodevelopmental Disorders. 8 (1): 12. doi:10.1186/s11689-016-9145-x. PMC 4822234. PMID 27053961. Retrieved 31 May 2023.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  9. ^ Cummings, Katherine; Watkins, Alice; Jones, Chris; Dias, Renuka; Welham, Alice (December 2022). "Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics". Journal of Neurodevelopmental Disorders. 14 (1): 1. doi:10.1186/s11689-021-09406-w. PMC 8903687. PMID 34983360. Retrieved 27 May 2023.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  10. ^ Thomas, Andrea T.; Waite, Jane; Williams, Caitlin A.; Kirk, Jeremy; Oliver, Chris; Richards, Caroline (December 2022). "Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis". Journal of Neurodevelopmental Disorders. 14 (1): 49. doi:10.1186/s11689-022-09459-5. PMC 9429597. PMID 36045324. Retrieved 31 May 2023.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  11. ^ Norina, Usman; Moushumi, Sur (2023-03-06). "CHARGE Syndrome". ncbi.nlm.nih.gov. StatPearls Publishing. PMID 32644625. Bookshelf ID: NBK559199. Archived from the original on 2023-06-07. Retrieved 2023-06-07.
  12. ^ Colleen A, Morris (2023-04-13) [9 april 1999]. "Williams Syndrome". ncbi.nlm.nih.gov. GeneReviews. PMID 20301427. Bookshelf ID: NBK1249. Archived from the original on 2023-06-07. Retrieved 2023-06-07.
  13. ^ Bromley, Rebecca; Weston, Jennifer; Adab, Naghme; Greenhalgh, Janette; Sanniti, Anna; McKay, Andrew J; Tudur Smith, Catrin; Marson, Anthony G (30 October 2014). "Treatment for epilepsy in pregnancy: neurodevelopmental outcomes in the child". Cochrane Database of Systematic Reviews. 2020 (6). doi:10.1002/14651858.CD010236.pub2. PMC 7390020. PMID 25354543. Retrieved 29 May 2023.
  14. ^ Clayton-Smith, Jill; Bromley, Rebecca; Dean, John; Journel, Hubert; Odent, Sylvie; Wood, Amanda; Williams, Janet; Cuthbert, Verna; Hackett, Latha; Aslam, Neelo; Malm, Heli; James, Gregory; Westbom, Lena; Day, Ruth; Ladusans, Edmund; Jackson, Adam; Bruce, Iain; Walker, Robert; Sidhu, Sangeet; Dyer, Catrina; Ashworth, Jane; Hindley, Daniel; Diaz, Gemma Arca; Rawson, Myfanwy; Turnpenny, Peter (December 2019). "Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability". Orphanet Journal of Rare Diseases. 14 (1): 180. doi:10.1186/s13023-019-1064-y. PMC 6642533. PMID 31324220. Retrieved 27 May 2023.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Retrieved from "https://en.wikipedia.org/enwiki/w/index.php?title=Syndromic_autism&oldid=1159500532"