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{{Short description|Autism associated with another medical condition}}
{{Too specialized}}
{{Too specialized|date=June 2023}}


'''Syndromic autism''' (or '''syndromic autism spectrum disorders''') denotes cases of [[autism spectrum disorder]] that are associated with a broader [[medical condition]], generally a [[syndrome]]. Cases without such association, which account for the majority of total autism cases, are known as ''non-syndromic autism'' (or ''non-syndromic autism spectrum disorders'').
'''Syndromic autism''' (or '''syndromic autism spectrum disorders''') denotes cases of [[autism spectrum disorder]] that are associated with a broader [[medical condition]], generally a [[syndrome]]. Cases without such association, which account for the majority of total autism cases, are known as ''non-syndromic autism'' (or ''non-syndromic autism spectrum disorders'').


Studying the differences and similarities (e.g. common [[Biological pathway|pathways]]) between syndromic and non-syndromic cases can provide insights about the [[pathophysiology of autism]] and pave the way to new [[autism therapies]].<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>
Studying the differences and similarities (e.g. common [[Biological pathway|pathways]]) between syndromic and non-syndromic cases can provide insights about the [[pathophysiology of autism]] and pave the way to new [[autism therapies]].<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 |pmc=6011246 |doi-access=free }}</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 |s2cid=3332899 |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 |pmc=5789213}}</ref>


== Syndromic autism ==
== Syndromic autism ==
Autism spectrum disorder (ASD) is referred to as syndromic when it is one of the many characteristics associated with a broader [[medical condition]], generally a [[syndrome]].
Autism spectrum disorder (ASD) is referred to as syndromic when it is one of the many characteristics associated with a broader [[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> In most{{Quantify|date=June 2023}} cases, its [[etiology]] is known.{{Citation needed|date=June 2023}}
Syndromic autism represents about 25% of the total ASD cases.<ref name="pmid29398931" /><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 |s2cid=12742356 |url=https://www.nature.com/articles/nrn3992 |access-date=8 June 2023}}</ref> In most{{Quantify|date=June 2023}} cases, its [[etiology]] is known.<ref name="pmid27786181" /><ref name="pmid29398931" />


[[Monogenic disorders]] are one of the causes of syndromic autism, which in this case are also known as ''monogenic autism spectrum disorders.'' They account for about 5% of the total ASD cases.
[[Monogenic disorders]] are one of the causes of syndromic autism, which in this case are also known as ''monogenic autism spectrum disorders.'' They account for about 5% of the total ASD cases.


Certain{{Which|date=June 2023}} syndromic forms of ASD can also have different{{Compared to?}} phenomenology.{{Clarify|date=June 2023}}
Certain{{Which|date=June 2023}} syndromic forms of ASD can also have different{{Compared to?|date=June 2023}} phenomenology.{{Clarify|date=June 2023}}


== Non-syndromic autism ==
== Non-syndromic autism ==
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=== Clinically defined ===
=== Clinically defined ===
Syndromes recognized by clinicians (depending on their experience), typically confirmed by a targeted genetic testing.
Syndromes recognized by clinicians (depending on their experience), typically confirmed by a targeted [[genetic testing]].
*Chromosomal (e.g.: [[Down syndrome]])
*Chromosomal (e.g.: [[Down syndrome]])
*Syndromes caused by mutations in single genes (e.g.: [[NF1 (gene)|NF1]], [[Tuberous sclerosis|TSC]], [[PTEN (gene)|PTEN]]-associated macrocephaly syndrome, some males with [[Fragile X syndrome|FXS]])
*Syndromes caused by mutations in single genes (e.g.: [[NF1 (gene)|NF1]], [[Tuberous sclerosis|TSC]], [[PTEN (gene)|PTEN]]-associated macrocephaly syndrome, some males with [[Fragile X syndrome|FXS]])
*Syndromes caused by [[Copy number variation|CNVs]] (e.g.: [[DiGeorge syndrome|microdeletion 22q11.2 syndrome]])
*Syndromes caused by [[Copy number variation|CNVs]] (e.g.: [[DiGeorge syndrome|microdeletion 22q11.2 syndrome]])
*Teratogens (e.g.: [[Fetal Valproate Spectrum Disorder|valproate aembryopathy]])
*Teratogens (e.g.: [[Fetal valproate spectrum disorder|valproate aembryopathy]])


=== Molecularly defined ===
=== Molecularly defined ===
Syndromes recognized by genome-wide testing, not by hypothesis-driven testing (since clinical recognition is difficult).
Syndromes recognized by genome-wide testing, not by hypothesis-driven testing (since clinical recognition is difficult).
*Chromosomal (e.g.: [[isodicentric 15]]q)
*Chromosomal (e.g.: [[isodicentric 15]]q)
*ASD-risk genes (e.g.: [[ADNP (gene)|ADNP]], [[ARID1B|ARIDB1B]], [[ANK2]], [[SCN2A]])
*ASD-risk genes (e.g.: [[ADNP (gene)|ADNP]], [[ARID1B|ARIDB1B]], [[ANK2]], [[SCN2A]])
*ASD-associated CNVs (e.g.: [[16p11.2]] deletion/duplication, exonic [[NRXN1]] deletions)
*ASD-associated CNVs (e.g.: [[16p11.2 deletion syndrome|16p11.2 deletion]]/[[16p11.2 duplication syndrome|duplication]], exonic [[NRXN1]] deletions)


=== Currently undefined===
=== Currently undefined===
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! Condition !! Cause !! [[Chromosome|Chromosome(s)]] involved (if a mutation) !! ASD prevalence ([[95% CI]]) !! Clinically/Molecularly defined || Other characteristics !! {{refh}}
! Condition !! Cause !! [[Chromosome|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 chromosome|X]] ||  30% (20.0–31.0) [male individuals only]<br>  22% (15.0–30.0) [mixed sex]<br> 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 |intellectual disability (ID)]], [[seizure]]s || <ref name="pmid29951185"/><ref name="pmid26341300"/><ref name="pmid29398931"/><ref name="pmid34294028">{{cite journal |last1=Marlborough |first1=M. |last2=Welham |first2=A. |last3=Jones |first3=C. |last4=Reckless |first4=S. |last5=Moss |first5=J. |title=Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence |journal=[[Journal of Neurodevelopmental Disorders]] |date=December 2021 |volume=13 |issue=1 |pages=28 |doi=10.1186/s11689-021-09362-5 |pmid=34294028 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299695/ |access-date=30 May 2023 |pmc=8299695}}</ref>
| [[Fragile X syndrome]] || '''[[Monogenic disorder]]''':<br />[[FMR1]] (encodes FMRP) || [[X chromosome|X]] ||  30% (20.0–31.0) [male individuals only]<br />  22% (15.0–30.0) [mixed sex]<br /> 14% (13–18) [female individuals only] || Clinically defined [in some males] || Long/narrow face, [[macroorchidism]], long ears and [[philtrum]], [[hyperactivity]], mild to moderate [[intellectual disability |intellectual disability (ID)]], [[seizure]]s || <ref name="pmid29951185"/><ref name="pmid26341300"/><ref name="pmid29398931"/><ref name="pmid34294028">{{cite journal |last1=Marlborough |first1=M. |last2=Welham |first2=A. |last3=Jones |first3=C. |last4=Reckless |first4=S. |last5=Moss |first5=J. |title=Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence |journal=[[Journal of Neurodevelopmental Disorders]] |date=December 2021 |volume=13 |issue=1 |pages=28 |doi=10.1186/s11689-021-09362-5 |pmid=34294028 |pmc=8299695 |doi-access=free }}</ref>
|-
|-
| [[Rett syndrome]] || '''[[Monogenic disorder]]''':<br>[[MECP2]] || [[X chromosome|X]] || 61.0% (46.0–74.0) [female individuals only] || Clinically defined || [[Microcephaly]], breathing irregularities, language deficits, repetitive/stereotyped hand movements, [[epilepsy]], [[Intellectual disability|ID]] || <ref name="pmid29951185"/><ref name="pmid26341300"/><ref name="pmid29398931"/>
| [[Rett syndrome]] || '''[[Monogenic disorder]]''':<br />[[MECP2]] || [[X chromosome|X]] || 61.0% (46.0–74.0) [female individuals only] || Clinically defined || [[Microcephaly]], breathing irregularities, language deficits, repetitive/stereotyped hand movements, [[epilepsy]], [[Intellectual disability|ID]] || <ref name="pmid29951185"/><ref name="pmid26341300"/><ref name="pmid29398931"/>
|-
|-
| [[MECP2 duplication syndrome]] || '''[[Monogenic disorder]]''':<br>[[MECP2]] || [[X chromosome|X]] || 100% [in a single study composed by 9 male participants] || Clinically defined || [[Brachycephaly]], [[spasticity]], recurrent respiratory infections, gastrointestinal hypermotility, [[Genitourinary system|genitourinary]] abnormalities, epilepsy, ID || <ref name="pmid29951185"/><ref name="pmid29398931"/><ref name="pmid20035514">{{cite journal |last1=Ramocki |first1=Melissa B. |last2=Peters |first2=Sarika U. |last3=Tavyev |first3=Y. Jane |last4=Zhang |first4=Feng |last5=Carvalho |first5=Claudia M. B. |last6=Schaaf |first6=Christian P. |last7=Richman |first7=Ronald |last8=Fang |first8=Ping |last9=Glaze |first9=Daniel G. |last10=Lupski |first10=James R. |last11=Zoghbi |first11=Huda Y. |title=Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome |journal=[[Annals of Neurology]] |date=December 2009 |volume=66 |issue=6 |pages=771–782 |doi=10.1002/ana.21715 |pmid=20035514 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2801873/ |access-date=29 May 2023 |pmc=2801873}}</ref>
| [[MECP2 duplication syndrome]] || '''[[Monogenic disorder]]''':<br />[[MECP2]] || [[X chromosome|X]] || 100% [in a single study composed by 9 male participants] || Clinically defined || [[Brachycephaly]], [[spasticity]], recurrent respiratory infections, gastrointestinal hypermotility, [[Genitourinary system|genitourinary]] abnormalities, epilepsy, ID || <ref name="pmid29951185"/><ref name="pmid29398931"/><ref name="pmid20035514">{{cite journal |last1=Ramocki |first1=Melissa B. |last2=Peters |first2=Sarika U. |last3=Tavyev |first3=Y. Jane |last4=Zhang |first4=Feng |last5=Carvalho |first5=Claudia M. B. |last6=Schaaf |first6=Christian P. |last7=Richman |first7=Ronald |last8=Fang |first8=Ping |last9=Glaze |first9=Daniel G. |last10=Lupski |first10=James R. |last11=Zoghbi |first11=Huda Y. |title=Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome |journal=[[Annals of Neurology]] |date=December 2009 |volume=66 |issue=6 |pages=771–782 |doi=10.1002/ana.21715 |pmid=20035514 |pmc=2801873}}</ref>
|-
|-
| [[Tuberous sclerosis complex]] || '''[[Monogenic disorder]]''':<br>[[TSC1]] <br> [[TSC2]] || [[Chromosome 9|9]]<br>[[Chromosome 16|16]] ||  36.0% (33.0–40.0) || Clinically defined || [[Benign tumor|Benign tumours]] in multiple organs, epilepsy || <ref name="pmid29951185"/><ref name="pmid26341300"/><ref name="pmid29398931"/>
| [[Tuberous sclerosis complex]] || '''[[Monogenic disorder]]''':<br />[[TSC1]] <br /> [[TSC2]] || [[Chromosome 9|9]]<br />[[Chromosome 16|16]] ||  36.0% (33.0–40.0) || Clinically defined || [[Benign tumor|Benign tumours]] in multiple organs, epilepsy || <ref name="pmid29951185"/><ref name="pmid26341300"/><ref name="pmid29398931"/>
|-
|-
| [[Angelman's syndrome]] || '''[[Monogenic disorder]]''':<br>[[UBE3A]] || [[Chromosome 15|15]] ||  34.0% (24.0–37.0) || || Cheerful demeanour, [[microcephaly]], epilepsy, speech deficits, sleep disturbance, [[epilepsy]], ID || <ref name="pmid29951185"/><ref name="pmid26341300"/>
| [[Angelman's syndrome]] || '''[[Monogenic disorder]]''':<br />[[UBE3A]] || [[Chromosome 15|15]] ||  34.0% (24.0–37.0) || || Cheerful demeanour, [[microcephaly]], epilepsy, speech deficits, sleep disturbance, [[epilepsy]], ID || <ref name="pmid29951185"/><ref name="pmid26341300"/>
|-
|-
| [[Phelan-McDermid Syndrome]] || '''[[Monogenic disorder]]''':<br>[[SHANK3]] || [[chromosome 22|22]] ||  84% [in a single study composed by 32 participants] || Molecularly defined || || <ref name="pmid29398931"/><ref name="pmid23758760">{{cite journal |last1=Soorya |first1=Latha |last2=Kolevzon |first2=Alexander |last3=Zweifach |first3=Jessica |last4=Lim |first4=Teresa |last5=Dobry |first5=Yuriy |last6=Schwartz |first6=Lily |last7=Frank |first7=Yitzchak |last8=Wang |first8=A Ting |last9=Cai |first9=Guiqing |last10=Parkhomenko |first10=Elena |last11=Halpern |first11=Danielle |last12=Grodberg |first12=David |last13=Angarita |first13=Benjamin |last14=Willner |first14=Judith P |last15=Yang |first15=Amy |last16=Canitano |first16=Roberto |last17=Chaplin |first17=William |last18=Betancur |first18=Catalina |last19=Buxbaum |first19=Joseph D |title=Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency |journal=[[Molecular Autism]] |date=December 2013 |volume=4 |issue=1 |pages=16 |doi=10.1186/2040-2392-4-18 |pmid=23758760 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3707861/ |access-date=29 May 2023 |pmc=3707861}}</ref>
| [[Phelan-McDermid syndrome]] || '''[[Monogenic disorder]]''':<br />[[SHANK3]] || [[chromosome 22|22]] ||  84% [in a single study composed by 32 participants] || Molecularly defined || || <ref name="pmid29398931"/><ref name="pmid23758760">{{cite journal |last1=Soorya |first1=Latha |last2=Kolevzon |first2=Alexander |last3=Zweifach |first3=Jessica |last4=Lim |first4=Teresa |last5=Dobry |first5=Yuriy |last6=Schwartz |first6=Lily |last7=Frank |first7=Yitzchak |last8=Wang |first8=A Ting |last9=Cai |first9=Guiqing |last10=Parkhomenko |first10=Elena |last11=Halpern |first11=Danielle |last12=Grodberg |first12=David |last13=Angarita |first13=Benjamin |last14=Willner |first14=Judith P |last15=Yang |first15=Amy |last16=Canitano |first16=Roberto |last17=Chaplin |first17=William |last18=Betancur |first18=Catalina |last19=Buxbaum |first19=Joseph D |title=Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency |journal=[[Molecular Autism]] |date=December 2013 |volume=4 |issue=1 |pages=16 |doi=10.1186/2040-2392-4-18 |pmid=23758760 |pmc=3707861 |doi-access=free }}</ref>
|-
|-
| [[Timothy syndrome]] || '''[[Monogenic disorder]]''':<br>[[Cav1.2|CACNA1C]] || [[Chromosome 12|12]] ||  80% [in a single study composed by 17 participants] || Clinically defined || || <ref name="pmid29398931"/><ref name="pmid15454078">{{cite journal |last1=Splawski |first1=Igor |last2=Timothy |first2=Katherine W. |last3=Sharpe |first3=Leah M. |last4=Decher |first4=Niels |last5=Kumar |first5=Pradeep |last6=Bloise |first6=Raffaella |last7=Napolitano |first7=Carlo |last8=Schwartz |first8=Peter J. |last9=Joseph |first9=Robert M. |last10=Condouris |first10=Karen |last11=Tager-Flusberg |first11=Helen |last12=Priori |first12=Silvia G. |last13=Sanguinetti |first13=Michael C. |last14=Keating |first14=Mark T. |title=CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism |journal=[[Cell (journal)|Cell]] |date=October 2004 |volume=119 |issue=1 |pages=19–31 |doi=10.1016/j.cell.2004.09.011 |pmid=15454078 |url=https://linkinghub.elsevier.com/retrieve/pii/S0092867404008426 |access-date=29 May 2023}}</ref>
| [[Timothy syndrome]] || '''[[Monogenic disorder]]''':<br />[[Cav1.2|CACNA1C]] || [[Chromosome 12|12]] ||  80% [in a single study composed by 17 participants] || Clinically defined || || <ref name="pmid29398931"/><ref name="pmid15454078">{{cite journal |last1=Splawski |first1=Igor |last2=Timothy |first2=Katherine W. |last3=Sharpe |first3=Leah M. |last4=Decher |first4=Niels |last5=Kumar |first5=Pradeep |last6=Bloise |first6=Raffaella |last7=Napolitano |first7=Carlo |last8=Schwartz |first8=Peter J. |last9=Joseph |first9=Robert M. |last10=Condouris |first10=Karen |last11=Tager-Flusberg |first11=Helen |last12=Priori |first12=Silvia G. |last13=Sanguinetti |first13=Michael C. |last14=Keating |first14=Mark T. |title=CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism |journal=[[Cell (journal)|Cell]] |date=October 2004 |volume=119 |issue=1 |pages=19–31 |doi=10.1016/j.cell.2004.09.011 |pmid=15454078 |s2cid=15325633 |doi-access=free }}</ref>
|-
|-
| [[Smith-Lemli-Opitz syndrome]] || '''[[Monogenic disorder]]''':<br>[[DHCR7]] || [[Chromosome 11|11]] || 55% [in a single study composed by 33 participants] || || || <ref name="pmid27053961">{{cite journal |last1=Thurm |first1=Audrey |last2=Tierney |first2=Elaine |last3=Farmer |first3=Cristan |last4=Albert |first4=Phebe |last5=Joseph |first5=Lisa |last6=Swedo |first6=Susan |last7=Bianconi |first7=Simona |last8=Bukelis |first8=Irena |last9=Wheeler |first9=Courtney |last10=Sarphare |first10=Geeta |last11=Lanham |first11=Diane |last12=Wassif |first12=Christopher A. |last13=Porter |first13=Forbes D. |title=Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update |journal=[[Journal of Neurodevelopmental Disorders]] |date=December 2016 |volume=8 |issue=1 |pages=12 |doi=10.1186/s11689-016-9145-x |pmid=27053961 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822234/ |access-date=31 May 2023 |pmc=4822234}}</ref>
| [[Smith-Lemli-Opitz syndrome]] || '''[[Monogenic disorder]]''':<br />[[DHCR7]] || [[Chromosome 11|11]] || 55% [in a single study composed by 33 participants] || || || <ref name="pmid27053961">{{cite journal |last1=Thurm |first1=Audrey |last2=Tierney |first2=Elaine |last3=Farmer |first3=Cristan |last4=Albert |first4=Phebe |last5=Joseph |first5=Lisa |last6=Swedo |first6=Susan |last7=Bianconi |first7=Simona |last8=Bukelis |first8=Irena |last9=Wheeler |first9=Courtney |last10=Sarphare |first10=Geeta |last11=Lanham |first11=Diane |last12=Wassif |first12=Christopher A. |last13=Porter |first13=Forbes D. |title=Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update |journal=[[Journal of Neurodevelopmental Disorders]] |date=December 2016 |volume=8 |issue=1 |pages=12 |doi=10.1186/s11689-016-9145-x |pmid=27053961 |pmc=4822234 |doi-access=free }}</ref>
|-
|-
| [[Neurofibromatosis type I]] || '''[[Monogenic disorder]]''':<br>[[NF1 (gene)|NF1]] || [[Chromosome 17|17]] ||  18% (9.0–29.0) || Clinically defined || || <ref name="pmid26341300"/><ref name="pmid29398931"/>
| [[Neurofibromatosis type I]] || '''[[Monogenic disorder]]''':<br />[[NF1 (gene)|NF1]] || [[Chromosome 17|17]] ||  18% (9.0–29.0) || Clinically defined || || <ref name="pmid26341300"/><ref name="pmid29398931"/>
|-
|-
| [[PTEN hamartoma tumor syndrome]] || '''[[Monogenic disorder]]''':<br>[[PTEN (gene)|PTEN]] || [[chromosome 10|10]] ||  17% (8–27) || Clinically defined || || <ref name="pmid29398931"/><ref name="pmid34983360">{{cite journal |last1=Cummings |first1=Katherine |last2=Watkins |first2=Alice |last3=Jones |first3=Chris |last4=Dias |first4=Renuka |last5=Welham |first5=Alice |title=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=[[Journal of Neurodevelopmental Disorders]] |date=December 2022 |volume=14 |issue=1 |pages=1 |doi=10.1186/s11689-021-09406-w |pmid=34983360 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8903687/ |access-date=27 May 2023 |pmc=8903687}}</ref>
| [[PTEN hamartoma tumor syndrome]] || '''[[Monogenic disorder]]''':<br />[[PTEN (gene)|PTEN]] || [[chromosome 10|10]] ||  17% (8–27) || Clinically defined || || <ref name="pmid29398931"/><ref name="pmid34983360">{{cite journal |last1=Cummings |first1=Katherine |last2=Watkins |first2=Alice |last3=Jones |first3=Chris |last4=Dias |first4=Renuka |last5=Welham |first5=Alice |title=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=[[Journal of Neurodevelopmental Disorders]] |date=December 2022 |volume=14 |issue=1 |pages=1 |doi=10.1186/s11689-021-09406-w |pmid=34983360 |pmc=8903687 |doi-access=free }}</ref>
|-
|-
| [[Down syndrome]] || '''[[Chromosomal disorder]]''':<br>[[trisomy]] [[Chromosome 21|21]] || [[Chromosome 21|21]] || 16% (8.0–24.0) || Clinically defined || || <ref name="pmid26341300"/><ref name="pmid29398931"/>
| [[Down syndrome]] || '''[[Chromosomal disorder]]''':<br />[[trisomy]] [[Chromosome 21|21]] || [[Chromosome 21|21]] || 16% (8.0–24.0) || Clinically defined || || <ref name="pmid26341300"/><ref name="pmid29398931"/>
|-
|-
| [[Cohen's syndrome]] || '''[[Monogenic disorder]]''':<br>[[VPS13B]] || [[Chromosome 8|8]] ||  54% (44.0–64.0) || Clinically defined || || <ref name="pmid26341300"/><ref name="pmid29398931"/>
| [[Cohen's syndrome]] || '''[[Monogenic disorder]]''':<br />[[VPS13B]] || [[Chromosome 8|8]] ||  54% (44.0–64.0) || Clinically defined || || <ref name="pmid26341300"/><ref name="pmid29398931"/>
|-
|-
| [[Cornelia de Lange syndrome]] || '''[[Polygenic disorder]]''' || ||  43% (32.0–53.0) || Clinically defined || || <ref name="pmid26341300"/><ref name="pmid29398931"/>
| [[Cornelia de Lange syndrome]] || '''[[Polygenic disorder]]''' || ||  43% (32.0–53.0) || Clinically defined || || <ref name="pmid26341300"/><ref name="pmid29398931"/>
|-
|-
| [[CHARGE syndrome]] || '''[[Monogenic disorder]]''':<br>[[CHD7]] || [[Chromosome 8|8]] ||  28% (16–41) || Clinically defined || || <ref name="pmid29398931"/><ref name="pmid36045324">{{cite journal |last1=Thomas |first1=Andrea T. |last2=Waite |first2=Jane |last3=Williams |first3=Caitlin A. |last4=Kirk |first4=Jeremy |last5=Oliver |first5=Chris |last6=Richards |first6=Caroline |title=Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis |journal=[[Journal of Neurodevelopmental Disorders]] |date=December 2022 |volume=14 |issue=1 |pages=49 |doi=10.1186/s11689-022-09459-5 |pmid=36045324 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9429597/ |access-date=31 May 2023 |pmc=9429597}}</ref><ref name="pmid32644625">{{Cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK559199/ |title=CHARGE Syndrome |date=2023-03-06 |access-date=2023-06-07 |website=[[ncbi.nlm.nih.gov]] |last=Norina |first=Usman |archive-url=https://archive.is/xmDKm |archive-date=2023-06-07 |url-status=live|publisher=[[StatPearls Publishing]] |last2=Moushumi |first2=Sur |pmid=32644625 |id=Bookshelf ID: NBK559199}}</ref>
| [[CHARGE syndrome]] || '''[[Monogenic disorder]]''':<br />[[CHD7]] || [[Chromosome 8|8]] ||  28% (16–41) || Clinically defined || || <ref name="pmid29398931"/><ref name="pmid36045324">{{cite journal |last1=Thomas |first1=Andrea T. |last2=Waite |first2=Jane |last3=Williams |first3=Caitlin A. |last4=Kirk |first4=Jeremy |last5=Oliver |first5=Chris |last6=Richards |first6=Caroline |title=Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis |journal=[[Journal of Neurodevelopmental Disorders]] |date=December 2022 |volume=14 |issue=1 |pages=49 |doi=10.1186/s11689-022-09459-5 |pmid=36045324 |pmc=9429597 |doi-access=free }}</ref><ref name="pmid32644625">{{Cite journal |url=https://www.ncbi.nlm.nih.gov/books/NBK559199/ |title=CHARGE Syndrome |date=2023-03-06 |access-date=2023-06-07 |website=[[ncbi.nlm.nih.gov]] |last1=Norina |first1=Usman |archive-url=https://archive.today/20230606220901/https://www.ncbi.nlm.nih.gov/books/NBK559199/ |archive-date=2023-06-06 |url-status=live|publisher=[[StatPearls Publishing]] |last2=Moushumi |first2=Sur |pmid=32644625 |id=Bookshelf ID: NBK559199}}</ref>
|-
|-
| [[Noonan's syndrome]] || '''[[Polygenic disorder]]''' || ||  15% (7.0–26.0) || || || <ref name="pmid26341300"/>
| [[Noonan's syndrome]] || '''[[Polygenic disorder]]''' || ||  15% (7.0–26.0) || || || <ref name="pmid26341300"/>
|-
|-
| [[William's syndrome]] || '''[[Microdeletion syndrome]]''':<br>[[7q11.23]] || [[Chromosome 7|7]] || 12% (6.0–20.0) || || || <ref name="pmid26341300"/><ref name="pmid20301427">{{Cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1249/ |title=Williams Syndrome |date=2023-04-13 |access-date=2023-06-07 |website=[[ncbi.nlm.nih.gov]] |last=Colleen A |first=Morris |archive-url=https://archive.is/vVXf1 |archive-date=2023-06-07 |url-status=live |publisher=[[GeneReviews]] |orig-date=9 april 1999 |pmid=20301427 |id=Bookshelf ID: NBK1249}}</ref>
| [[William's syndrome]] || '''[[Microdeletion syndrome]]''':<br />[[7q11.23]] || [[Chromosome 7|7]] || 12% (6.0–20.0) || || || <ref name="pmid26341300"/><ref name="pmid20301427">{{Cite journal |url=https://www.ncbi.nlm.nih.gov/books/NBK1249/ |title=Williams Syndrome |date=2023-04-13 |access-date=2023-06-07 |website=[[ncbi.nlm.nih.gov]] |last=Colleen A |first=Morris |archive-url=https://archive.today/20230606222743/https://www.ncbi.nlm.nih.gov/books/NBK1249/ |archive-date=2023-06-06 |url-status=live |publisher=[[GeneReviews]] |orig-date=9 April 1999 |pmid=20301427 |id=Bookshelf ID: NBK1249}}</ref>
|-
|-
| [[22q11.2 deletion syndrome]] || '''[[Microdeletion syndrome]]''':<br>[[22q11.2]] || [[Chromosome 22|22]] || 11% (5.0–19.0) || Clinically defined || || <ref name="pmid26341300"/><ref name="pmid29398931"/>
| [[22q11.2 deletion syndrome]] || '''[[Microdeletion syndrome]]''':<br />[[22q11.2]] || [[Chromosome 22|22]] || 11% (5.0–19.0) || Clinically defined || || <ref name="pmid26341300"/><ref name="pmid29398931"/>
|-
|-
| [[Fetal Valproate Spectrum Disorder]] || '''[[Teratogen]]''':<br>[[valproate]] || ||  8–15% [in VPA exposed children] || Clinically defined || || <ref name="pmid29398931"/><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% [in VPA exposed children] || Clinically defined || || <ref name="pmid29398931"/><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 |pages=CD010236 |doi=10.1002/14651858.CD010236.pub2 |pmid=25354543 |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 |pmc=6642533 |doi-access=free }}</ref>
|}
|}

== See also ==

* [[Causes of autism]]
* [[Conditions comorbid to autism spectrum disorders]]


==References==
==References==
{{reflist}}
{{reflist}}
{{Autism spectrum}}


{{DEFAULTSORT:Syndromic autism}}
{{DEFAULTSORT:Syndromic autism}}
[[Category:Autism spectrum disorders]]
[[Category:Syndromic autism| ]]
[[Category:Autism]]

Latest revision as of 17:38, 1 October 2024

Syndromic autism (or syndromic autism spectrum disorders) denotes cases of autism spectrum disorder that are associated with a broader medical condition, generally a syndrome. Cases without such association, which account for the majority of total autism cases, are known as non-syndromic autism (or non-syndromic autism spectrum disorders).

Studying the differences and similarities (e.g. common pathways) between syndromic and non-syndromic cases can provide insights about the pathophysiology of autism and pave the way to new autism therapies.[1][2][3][4]

Syndromic autism

[edit]

Autism spectrum disorder (ASD) is referred to as syndromic when it is one of the many characteristics associated with a broader medical condition, generally a syndrome.

Syndromic autism represents about 25% of the total ASD cases.[4][5] In most[quantify] cases, its etiology is known.[2][4]

Monogenic disorders are one of the causes of syndromic autism, which in this case are also known as monogenic autism spectrum disorders. They account for about 5% of the total ASD cases.

Certain[which?] syndromic forms of ASD can also have different[compared to?] phenomenology.[clarification needed]

Non-syndromic autism

[edit]

Non-syndromic autism, also called classic autism or idiopathic autism (as in most cases, the etiology is unknown), represents the majority of total autism cases.

In most[quantify] cases, its cause is polygenic.[citation needed]

Classification

[edit]

A 2017 study[relevant?] proposed to replace the classification "syndromic"/"non-syndromic" ASD into 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.[4][clarification needed]

Following the proposal, ASD would be divided into three genetic categories:[4]

Clinically defined

[edit]

Syndromes recognized by clinicians (depending on their experience), typically confirmed by a targeted genetic testing.

Molecularly defined

[edit]

Syndromes recognized by genome-wide testing, not by hypothesis-driven testing (since clinical recognition is difficult).

Currently undefined

[edit]

Currently undefined.[clarification needed]

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, hyperactivity, mild to moderate intellectual disability (ID), seizures [1][3][4][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 [1][3][4]
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][4][7]
Tuberous sclerosis complex Monogenic disorder:
TSC1
TSC2		 9
16		  36.0% (33.0–40.0) Clinically defined Benign tumours in multiple organs, epilepsy [1][3][4]
Angelman's syndrome Monogenic disorder:
UBE3A		 15  34.0% (24.0–37.0) Cheerful demeanour, microcephaly, epilepsy, speech deficits, sleep disturbance, epilepsy, ID [1][3]
Phelan-McDermid syndrome Monogenic disorder:
SHANK3		 22  84% [in a single study composed by 32 participants] Molecularly defined [4][8]
Timothy syndrome Monogenic disorder:
CACNA1C		 12  80% [in a single study composed by 17 participants] Clinically defined [4][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 [3][4]
PTEN hamartoma tumor syndrome Monogenic disorder:
PTEN		 10  17% (8–27) Clinically defined [4][11]
Down syndrome Chromosomal disorder:
trisomy 21		 21 16% (8.0–24.0) Clinically defined [3][4]
Cohen's syndrome Monogenic disorder:
VPS13B		 8  54% (44.0–64.0) Clinically defined [3][4]
Cornelia de Lange syndrome Polygenic disorder  43% (32.0–53.0) Clinically defined [3][4]
CHARGE syndrome Monogenic disorder:
CHD7		 8  28% (16–41) Clinically defined [4][12][13]
Noonan's syndrome Polygenic disorder  15% (7.0–26.0) [3]
William's syndrome Microdeletion syndrome:
7q11.23		 7  12% (6.0–20.0) [3][14]
22q11.2 deletion syndrome Microdeletion syndrome:
22q11.2		 22 11% (5.0–19.0) Clinically defined [3][4]
Fetal valproate spectrum disorder Teratogen:
valproate		  8–15% [in VPA exposed children] Clinically defined [4][15][16]

See also

[edit]

References

[edit]
  1. ^ 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.
  2. ^ a b 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. S2CID 3332899. Retrieved 4 June 2023.
  3. ^ 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.
  4. ^ a b c d e f g h i j k l m n o p q r s 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.
  5. ^ 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. S2CID 12742356. Retrieved 8 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.
  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.
  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.
  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. S2CID 15325633.
  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.
  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.
  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.
  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 2023-06-06. 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 2023-06-06. 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): CD010236. doi:10.1002/14651858.CD010236.pub2. PMC 7390020. PMID 25354543.
  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.
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