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←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>[...'
 
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{{Main|Autism_spectrum}}
Autism spectrum disorder can be classified in two categories: "'''''syndromic autism'''''" and "'''''non-syndromic autism'''''". ASD is syndromic when it is one of the many characteristics that are associated with a more broad [[medical condition]], generally a [[syndrome]]. Syndromic autism represents about 25% of the total ASD cases<ref name="pmid26289574">{{cite journal |last1=Bourgeron |first1=Thomas |title=From the genetic architecture to synaptic plasticity in autism spectrum disorder |journal=[[Nature Reviews Neuroscience]] |date=September 2015 |volume=16 |issue=9 |pages=551–563 |doi=10.1038/nrn3992 |pmid=26289574 |url=https://www.nature.com/articles/nrn3992 |access-date=8 June 2023}}</ref> and its etiology in most cases is known. [[Monogenic disorders]] are one of the causes of syndromic autism (in this case also known as "''monogenic ASD''"), they account for about 5% of the total ASD cases. Non-syndromic autism, also called "''classic autism''" and "''[[idiopathic]] autism''" (because in most cases etiology is unknown), represents the majority of total autism cases and in most cases its cause is polygenic. Certain syndromic form of ASD can also have different phenomenology. Studying the differences and similarities (e.g. common [[Biological pathway|pathways]]) between syndromic and non-syndromic autism can also give more insight about its [[pathophysiology]] and pave the way to new treatments.<ref name="pmid29951185">{{cite journal |last1=Benger |first1=Matthew |last2=Kinali |first2=Maria |last3=Mazarakis |first3=Nicholas D. |title=Autism spectrum disorder: prospects for treatment using gene therapy |journal=[[Molecular Autism]] |date=December 2018 |volume=9 |issue=1 |pages=39 |doi=10.1186/s13229-018-0222-8 |pmid=29951185 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011246/ |access-date=26 May 2023 |pmc=6011246}}</ref><ref name="pmid27786181">{{cite journal |last1=Sztainberg |first1=Yehezkel |last2=Zoghbi |first2=Huda Y |title=Lessons learned from studying syndromic autism spectrum disorders |journal=[[Nature Neuroscience]] |date=November 2016 |volume=19 |issue=11 |pages=1408–1417 |doi=10.1038/nn.4420 |pmid=27786181 |url=https://www.nature.com/articles/nn.4420 |access-date=4 June 2023}}</ref><ref name="pmid26341300">{{cite journal |last1=Richards |first1=Caroline |last2=Jones |first2=Christopher |last3=Groves |first3=Laura |last4=Moss |first4=Jo |last5=Oliver |first5=Chris |title=Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis |journal=[[The Lancet Psychiatry]] |date=October 2015 |volume=2 |issue=10 |pages=909–916 |doi=10.1016/S2215-0366(15)00376-4 |pmid=26341300 |url=https://www.thelancet.com/journals/lanpsy/article/PIIS2215-0366(15)00376-4/fulltext |access-date=27 May 2023}}</ref><ref name="pmid29398931">{{cite journal |last1=Fernandez |first1=Bridget A. |last2=Scherer |first2=Stephen W. |title=Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach |journal=[[Dialogues in Clinical Neuroscience]] |date=31 December 2017 |volume=19 |issue=4 |pages=353–371 |doi=10.31887/DCNS.2017.19.4/sscherer |pmid=29398931 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789213/ |access-date=4 June 2023 |pmc=5789213}}</ref> <br>
A 2017 study, also proposed to replace the classification "syndromic"/"non-syndromic" ASD into a one based on the genetic etiology of the condition, specifying if the syndromic condition occurs in the context of a "''[[Phenotype (clinical medicine)|phenotype first]]''" clinically defined syndrome or from a "''[[Genotype-first approach|genotype first]]''" molecularly defined syndrome. In this case ASD would be divided into three genetic categories:
*"'''''Clinically defined'''''": syndromes recognized by clinicians (depending on their experience), typically confirmed by a targeted genetic testing
**Chromosomal <sub>(e.g.: [[Down syndrome]])</sub>
**Syndromes caused by mutations in single genes <sub>(e.g.: [[NF1 (gene)|NF1]], [[Tuberous sclerosis|TSC]], [[PTEN (gene)|PTEN]]-associated macrocephaly syndrome, some males with [[Fragile X syndrome|FXS]])</sub>
**Syndromes caused by [[Copy number variation|CNVs]] <sub>(e.g.: [[DiGeorge syndrome|microdeletion 22q11.2 syndrome]])</sub>
**Teratogens <sub>(e.g: [[Fetal Valproate Spectrum Disorder|valproate aembryopathy]])</sub>
* "'''''Molecularly defined'''''": syndromes recognized by genome-wide testing, not by hypothesis-driven testing (since clinical recognition is difficult)
**Chromosomal <sub>(e.g.: [[Isodicentric 15|isodicentric 15q]])</sub>
**ASD-risk genes <sub>(e.g.: [[ADNP (gene)|ADNP]], [[ARID1B|ARIDB1B]], [[ANK2]], [[SCN2A]])</sub>
**ASD-associated CNVs <sub>(e.g.: [[16p11.2]] deletion/duplication, exonic [[NRXN1]] deletions)</sub>
* "'''''Currently undefined'''''"<ref name="pmid29398931"/>


{| class="wikitable sortable"
{| class="wikitable sortable"
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| [[Fetal Valproate Spectrum Disorder]] || '''[[Teratogen]]''':<br>[[valproate]] || ||  8–15% <sub>[in VPA exposed children]</sub> || Clinically defined || || <ref name="pmid29398931">{{cite journal |last1=Fernandez |first1=Bridget A. |last2=Scherer |first2=Stephen W. |title=Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach |journal=[[Dialogues in Clinical Neuroscience]] |date=31 December 2017 |volume=19 |issue=4 |pages=353–371 |doi=10.31887/DCNS.2017.19.4/sscherer |pmid=29398931 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789213/ |access-date=4 June 2023 |pmc=5789213}}</ref><ref name="pmid25354543">{{cite journal |last1=Bromley |first1=Rebecca |last2=Weston |first2=Jennifer |last3=Adab |first3=Naghme |last4=Greenhalgh |first4=Janette |last5=Sanniti |first5=Anna |last6=McKay |first6=Andrew J |last7=Tudur Smith |first7=Catrin |last8=Marson |first8=Anthony G |title=Treatment for epilepsy in pregnancy: neurodevelopmental outcomes in the child |journal=[[Cochrane Database of Systematic Reviews]] |date=30 October 2014 |volume=2020 |issue=6 |doi=10.1002/14651858.CD010236.pub2 |pmid=25354543 |url=https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD010236.pub2/full |access-date=29 May 2023 |pmc=7390020}}</ref><ref name="pmid31324220">{{cite journal |last1=Clayton-Smith |first1=Jill |last2=Bromley |first2=Rebecca |last3=Dean |first3=John |last4=Journel |first4=Hubert |last5=Odent |first5=Sylvie |last6=Wood |first6=Amanda |last7=Williams |first7=Janet |last8=Cuthbert |first8=Verna |last9=Hackett |first9=Latha |last10=Aslam |first10=Neelo |last11=Malm |first11=Heli |last12=James |first12=Gregory |last13=Westbom |first13=Lena |last14=Day |first14=Ruth |last15=Ladusans |first15=Edmund |last16=Jackson |first16=Adam |last17=Bruce |first17=Iain |last18=Walker |first18=Robert |last19=Sidhu |first19=Sangeet |last20=Dyer |first20=Catrina |last21=Ashworth |first21=Jane |last22=Hindley |first22=Daniel |last23=Diaz |first23=Gemma Arca |last24=Rawson |first24=Myfanwy |last25=Turnpenny |first25=Peter |title=Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability |journal=[[Orphanet Journal of Rare Diseases]] |date=December 2019 |volume=14 |issue=1 |pages=180 |doi=10.1186/s13023-019-1064-y |pmid=31324220 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642533/ |access-date=27 May 2023 |pmc=6642533}}</ref>
| [[Fetal Valproate Spectrum Disorder]] || '''[[Teratogen]]''':<br>[[valproate]] || ||  8–15% <sub>[in VPA exposed children]</sub> || Clinically defined || || <ref name="pmid29398931">{{cite journal |last1=Fernandez |first1=Bridget A. |last2=Scherer |first2=Stephen W. |title=Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach |journal=[[Dialogues in Clinical Neuroscience]] |date=31 December 2017 |volume=19 |issue=4 |pages=353–371 |doi=10.31887/DCNS.2017.19.4/sscherer |pmid=29398931 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789213/ |access-date=4 June 2023 |pmc=5789213}}</ref><ref name="pmid25354543">{{cite journal |last1=Bromley |first1=Rebecca |last2=Weston |first2=Jennifer |last3=Adab |first3=Naghme |last4=Greenhalgh |first4=Janette |last5=Sanniti |first5=Anna |last6=McKay |first6=Andrew J |last7=Tudur Smith |first7=Catrin |last8=Marson |first8=Anthony G |title=Treatment for epilepsy in pregnancy: neurodevelopmental outcomes in the child |journal=[[Cochrane Database of Systematic Reviews]] |date=30 October 2014 |volume=2020 |issue=6 |doi=10.1002/14651858.CD010236.pub2 |pmid=25354543 |url=https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD010236.pub2/full |access-date=29 May 2023 |pmc=7390020}}</ref><ref name="pmid31324220">{{cite journal |last1=Clayton-Smith |first1=Jill |last2=Bromley |first2=Rebecca |last3=Dean |first3=John |last4=Journel |first4=Hubert |last5=Odent |first5=Sylvie |last6=Wood |first6=Amanda |last7=Williams |first7=Janet |last8=Cuthbert |first8=Verna |last9=Hackett |first9=Latha |last10=Aslam |first10=Neelo |last11=Malm |first11=Heli |last12=James |first12=Gregory |last13=Westbom |first13=Lena |last14=Day |first14=Ruth |last15=Ladusans |first15=Edmund |last16=Jackson |first16=Adam |last17=Bruce |first17=Iain |last18=Walker |first18=Robert |last19=Sidhu |first19=Sangeet |last20=Dyer |first20=Catrina |last21=Ashworth |first21=Jane |last22=Hindley |first22=Daniel |last23=Diaz |first23=Gemma Arca |last24=Rawson |first24=Myfanwy |last25=Turnpenny |first25=Peter |title=Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability |journal=[[Orphanet Journal of Rare Diseases]] |date=December 2019 |volume=14 |issue=1 |pages=180 |doi=10.1186/s13023-019-1064-y |pmid=31324220 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642533/ |access-date=27 May 2023 |pmc=6642533}}</ref>
|}
|}

==References==
{{reflist}}

{{DEFAULTSORT:Autism spectrum}}
[[Category:Autism spectrum disorders| ]]
[[Category:Autism| ]]
[[Category:Developmental psychology]]
[[Category:Developmental neuroscience]]
[[Category:Learning disabilities]]
[[Category:Spectrum disorders]]

Revision as of 03:56, 11 June 2023

Main article: Autism_spectrum

Autism spectrum disorder can be classified in two categories: "syndromic autism" and "non-syndromic autism". ASD is syndromic when it is one of the many characteristics that are associated with a more broad medical condition, generally a syndrome. Syndromic autism represents about 25% of the total ASD cases[1] and its etiology in most cases is known. Monogenic disorders are one of the causes of syndromic autism (in this case also known as "monogenic ASD"), they account for about 5% of the total ASD cases. Non-syndromic autism, also called "classic autism" and "idiopathic autism" (because in most cases etiology is unknown), represents the majority of total autism cases and in most cases its cause is polygenic. Certain syndromic form of ASD can also have different phenomenology. Studying the differences and similarities (e.g. common pathways) between syndromic and non-syndromic autism can also give more insight about its pathophysiology and pave the way to new treatments.[2][3][4][5]
A 2017 study, also proposed to replace the classification "syndromic"/"non-syndromic" ASD into a one based on the genetic etiology of the condition, specifying if the syndromic condition occurs in the context of a "phenotype first" clinically defined syndrome or from a "genotype first" molecularly defined syndrome. In this case ASD would be divided into three genetic categories:

  • "Clinically defined": syndromes recognized by clinicians (depending on their experience), typically confirmed by a targeted genetic testing
  • "Molecularly defined": syndromes recognized by genome-wide testing, not by hypothesis-driven testing (since clinical recognition is difficult)
  • "Currently undefined"[5]
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 [2][4][5][6]
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 [2][4][5]
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 [2][5][7]
Tuberous sclerosis complex Monogenic disorder:
TSC1
TSC2		 9
16		  36.0% (33.0–40.0) Clinically defined Benign tumours in multiple organs, epilepsy [2][4][5]
Angelman's syndrome Monogenic disorder:
UBE3A		 15  34.0% (24.0–37.0) Cheerful demeanour, microcephaly, epilepsy, speech deficits, sleep disturbance, epilepsy, ID [2][4]
Phelan-McDermid Syndrome Monogenic disorder:
SHANK3		 22  84% [in a single study composed by 32 participants] Molecularly defined [5][8]
Timothy syndrome Monogenic disorder:
CACNA1C		 12  80% [in a single study composed by 17 participants] Clinically defined [5][9]
Smith-Lemli-Opitz syndrome Monogenic disorder:
DHCR7		 11 55% [in a single study composed by 33 participants]] [10]
Neurofibromatosis type I Monogenic disorder:
NF1		 17  18% (9.0–29.0) Clinically defined [4][5]
PTEN hamartoma tumor syndrome Monogenic disorder:
PTEN		 10  17% (8–27) Clinically defined [5][11]
Down syndrome Chromosomal disorder:
trisomy 21		 21 16% (8.0–24.0) Clinically defined [4][5]
Cohen's syndrome Monogenic disorder:
VPS13B		 8  54% (44.0–64.0) Clinically defined [4][5]
Cornelia de Lange syndrome Polygenic disorder  43% (32.0–53.0) Clinically defined [4][5]
CHARGE syndrome Monogenic disorder:
CHD7		 8  28% (16–41) Clinically defined [5][12][13]
Noonan's syndrome Polygenic disorder  15% (7.0–26.0) [4]
William's syndrome Microdeletion syndrome:
7q11.23		 7  12% (6.0–20.0) [4][14]
22q11.2 deletion syndrome Microdeletion syndrome:
22q11.2		 22 11% (5.0–19.0) Clinically defined [4][5]
Fetal Valproate Spectrum Disorder Teratogen:
valproate		  8–15% [in VPA exposed children] Clinically defined [5][15][16]

References

  1. ^ Bourgeron, Thomas (September 2015). "From the genetic architecture to synaptic plasticity in autism spectrum disorder". Nature Reviews Neuroscience. 16 (9): 551–563. doi:10.1038/nrn3992. PMID 26289574. Retrieved 8 June 2023.
  2. ^ a b c d e f 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)
  3. ^ Sztainberg, Yehezkel; Zoghbi, Huda Y (November 2016). "Lessons learned from studying syndromic autism spectrum disorders". Nature Neuroscience. 19 (11): 1408–1417. doi:10.1038/nn.4420. PMID 27786181. Retrieved 4 June 2023.
  4. ^ a b c d e f g h i j k l 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.
  5. ^ a b c d e f g h i j k l m n o p 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.
  6. ^ 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)
  7. ^ 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.
  8. ^ 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)
  9. ^ 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.
  10. ^ 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)
  11. ^ 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)
  12. ^ 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)
  13. ^ 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.
  14. ^ 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.
  15. ^ 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.
  16. ^ 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)
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