Multisystem developmental disorder: Difference between revisions
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{{Short description|Alternative diagnosis to autism}} | |||
{{distinguish|Multiple complex developmental disorder}} | {{distinguish|Multiple complex developmental disorder}} | ||
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==Other uses of the term== | ==Other uses of the term== | ||
The term ''multisystem developmental disorder'' has also been used to describe various [[developmental disorder]]s. These include: | The term ''multisystem developmental disorder'' has also been used to describe various [[developmental disorder]]s. These include: | ||
*[[Alagille syndrome]],<ref name=a>{{cite journal |doi=10.1002/ajmg.10608 |title=Craniosynostosis in Alagille syndrome |year=2002 |last1=Kamath |first1=BM |last2=Stolle |first2=C |last3=Bason |first3=L |last4=Colliton |first4=RP |last5=Piccoli |first5=DA |last6=Spinner |first6=NB |last7=Krantz |first7=ID |display-authors= 4 |journal=American Journal of Medical Genetics |volume=112 |issue=2 |pages=176–80 |pmid=12244552|doi-access=free }}</ref> an autosomal dominant disorder with a wide range of features and manifestations. Its five most significant features are chronic [[cholestasis]], a condition where bile cannot flow from the liver to the duodenum, occurring in 95% of cases; heart abnormalities (over 90%); butterfly vertebrae; posterior embryotoxon and a distinctive face (prominent forehead, deep-set eyes, and a pointed chin).<ref>{{cite journal |doi=10.1038/ejhg.2011.181 |title=Alagille syndrome: Pathogenesis, diagnosis and management |year=2011 |last1=Turnpenny |first1=PD |last2=Ellard |first2=S |journal=European Journal of Human Genetics |volume=20 |issue=3 |pages=251–7 |pmid=21934706 |pmc=3283172}}</ref> | *[[Alagille syndrome]],<ref name=a>{{cite journal |doi=10.1002/ajmg.10608 |title=Craniosynostosis in Alagille syndrome |year=2002 |last1=Kamath |first1=BM |last2=Stolle |first2=C |last3=Bason |first3=L |last4=Colliton |first4=RP |last5=Piccoli |first5=DA |last6=Spinner |first6=NB |last7=Krantz |first7=ID |display-authors= 4 |journal=American Journal of Medical Genetics |volume=112 |issue=2 |pages=176–80 |pmid=12244552|doi-access=free }}</ref> an [[autosomal dominant]] disorder with a wide range of features and manifestations. Its five most significant features are chronic [[cholestasis]], a condition where [[bile]] cannot flow from the [[liver]] to the [[duodenum]], occurring in 95% of cases; heart abnormalities (over 90%); butterfly vertebrae; posterior embryotoxon and a distinctive face (prominent forehead, deep-set eyes, and a pointed chin).<ref>{{cite journal |doi=10.1038/ejhg.2011.181 |title=Alagille syndrome: Pathogenesis, diagnosis and management |year=2011 |last1=Turnpenny |first1=PD |last2=Ellard |first2=S |journal=European Journal of Human Genetics |volume=20 |issue=3 |pages=251–7 |pmid=21934706 |pmc=3283172}}</ref> | ||
*[[Rubinstein-Taybi syndrome]],<ref name=rt>{{cite journal |pmid=8726717 |year=1996 |last1=Hendrix |first1=JD Jr |last2=Greer |first2=KE |title=Rubinstein-Taybi syndrome with multiple flamboyant keloids |volume=57 |issue=5 |pages=346–8 |journal=Cutis; Cutaneous Medicine for the Practitioner}}</ref><ref>{{cite web|url=https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome/|title=Rubinstein-Taybi syndrome: MedlinePlus Genetics }}</ref> a syndrome characterized by broad thumbs, facial abnormalities, and big toes alongside moderate to severe intellectual disability.<ref>{{cite journal |pmid=3629765 |year=1987 |last1=Melekos |first1=M |last2=Barbalias |first2=G |last3=Asbach |first3=HW |title=Rubinstein-Taybi syndrome |volume=30 |issue=3 |pages=238–9 |journal=Urology |doi=10.1016/0090-4295(87)90242-1}}</ref> | *[[Rubinstein-Taybi syndrome]],<ref name=rt>{{cite journal |pmid=8726717 |year=1996 |last1=Hendrix |first1=JD Jr |last2=Greer |first2=KE |title=Rubinstein-Taybi syndrome with multiple flamboyant keloids |volume=57 |issue=5 |pages=346–8 |journal=Cutis; Cutaneous Medicine for the Practitioner}}</ref><ref>{{cite web|url=https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome/|title=Rubinstein-Taybi syndrome: MedlinePlus Genetics }}</ref> a syndrome characterized by broad thumbs, facial abnormalities, and big toes alongside moderate to severe intellectual disability.<ref>{{cite journal |pmid=3629765 |year=1987 |last1=Melekos |first1=M |last2=Barbalias |first2=G |last3=Asbach |first3=HW |title=Rubinstein-Taybi syndrome |volume=30 |issue=3 |pages=238–9 |journal=Urology |doi=10.1016/0090-4295(87)90242-1}}</ref> | ||
*[[Williams syndrome]],<ref name=w>{{cite journal |doi=10.1111/j.1399-0004.1998.tb03715.x |title=A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome |year=2008 |last1=Rio |first1=T |last2=Urbán |first2=Z |last3=Csiszár |first3=K |last4=Boyd |first4=CD |journal=Clinical Genetics |volume=54 |issue=2 |pages=129–35 |pmid=9761391|s2cid=12793159 }}</ref><ref name=wb>{{cite journal |doi=10.1007/s00508-006-0658-2 |title=Echocardiographic findings in patients with Williams-Beuren syndrome |year=2006 |last1=Scheiber |first1=D |last2=Fekete |first2=G |last3=Urban |first3=Z |last4=Tarjan |first4=I |last5=Balaton |first5=G |last6=Kosa |first6=L |last7=Nagy |first7=K |last8=Vajo |first8=Z |display-authors= 4 |journal=Wiener Klinische Wochenschrift |volume=118 |issue=17–18 |pages=538–42 |pmid=17009066|s2cid=41861608 }}</ref> a neurodevelopmental disorder characterized by a unique profile of strengths and deficits; most with the condition have mild intellectual disability but have grammatical and lexical abilities above what would be expected from their IQs.<ref>{{cite book |last1=Bellugi |first1=U |last2=Wang |first2=PP |last3=Jernigan |first3=TL |chapter=Williams Syndrome: An Unusual Neuropsychological Profile |editor1-last=Broman |editor1-first=SH |editor2-last=Grafman |editor2-first=J |year=1994 |title=Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function |pages=23–56 |publisher=Taylor & Francis |isbn=978-0-8058-1180-3}}</ref> They are hypersocial and empathetic, but social isolation is commonly experienced.<ref>{{cite book|title=Williams-Beuren Syndrome: Research, Evaluation, and Treatment|page=237|url=https://books.google.com/books?id=qvKaSNg0pUcC&q=friendship+williams+syndrome&pg=PA237|isbn=978-0-8018-8212-8|last1=Morris|first1=CA|last2=Lenhoff|first2=HM|last3=Wang|first3=PP |date=2006-02-13|publisher=JHU Press }}</ref> | *[[Williams syndrome]],<ref name=w>{{cite journal |doi=10.1111/j.1399-0004.1998.tb03715.x |title=A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome |year=2008 |last1=Rio |first1=T |last2=Urbán |first2=Z |last3=Csiszár |first3=K |last4=Boyd |first4=CD |journal=Clinical Genetics |volume=54 |issue=2 |pages=129–35 |pmid=9761391|s2cid=12793159 }}</ref><ref name=wb>{{cite journal |doi=10.1007/s00508-006-0658-2 |title=Echocardiographic findings in patients with Williams-Beuren syndrome |year=2006 |last1=Scheiber |first1=D |last2=Fekete |first2=G |last3=Urban |first3=Z |last4=Tarjan |first4=I |last5=Balaton |first5=G |last6=Kosa |first6=L |last7=Nagy |first7=K |last8=Vajo |first8=Z |display-authors= 4 |journal=Wiener Klinische Wochenschrift |volume=118 |issue=17–18 |pages=538–42 |pmid=17009066|s2cid=41861608 }}</ref> a neurodevelopmental disorder characterized by a unique profile of strengths and deficits; most with the condition have [[mild intellectual disability]] but have grammatical and lexical abilities above what would be expected from their IQs.<ref>{{cite book |last1=Bellugi |first1=U |last2=Wang |first2=PP |last3=Jernigan |first3=TL |chapter=Williams Syndrome: An Unusual Neuropsychological Profile |editor1-last=Broman |editor1-first=SH |editor2-last=Grafman |editor2-first=J |year=1994 |title=Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function |pages=23–56 |publisher=Taylor & Francis |isbn=978-0-8058-1180-3}}</ref> They are hypersocial and empathetic, but social isolation is commonly experienced.<ref>{{cite book|title=Williams-Beuren Syndrome: Research, Evaluation, and Treatment|page=237|url=https://books.google.com/books?id=qvKaSNg0pUcC&q=friendship+williams+syndrome&pg=PA237|isbn=978-0-8018-8212-8|last1=Morris|first1=CA|last2=Lenhoff|first2=HM|last3=Wang|first3=PP |date=2006-02-13|publisher=JHU Press }}</ref> | ||
*[[Proteus syndrome]],<ref>{{cite journal |doi=10.1259/bjr/92343528 |title=Imaging manifestations in Proteus syndrome: An unusual multisystemdevelopmental disorder |year=2012 |last1=Kaduthodil |first1=M |last2=Prasad |first2=D |last3=Lowe |first3=A |last4=Punekar |first4=A |last5=Yeung |first5=S |last6=Kay |first6=C |display-authors= 4 |journal=British Journal of Radiology |volume=85 |issue=1017 |pages=e793–9 |pmid=22514103 |pmc=3487101}}</ref> a congenital disorder causing disproportionate growth of skin, bone, and other tissues.<ref>{{cite journal |doi=10.1007/s11832-011-0350-6 |title=Assessment and management of the orthopedic and other complications of Proteus syndrome |year=2011 |last1=Tosi |first1=LL |last2=Sapp |first2=JC |last3=Allen |first3=ES |last4=O'Keefe |first4=RJ |last5=Biesecker |first5=LG |display-authors= 4 |journal=[[Journal of Children's Orthopaedics]] |volume=5 |issue=5 |pages=319–27 |pmid=23024722 |pmc=3179535}}</ref> | *[[Proteus syndrome]],<ref>{{cite journal |doi=10.1259/bjr/92343528 |title=Imaging manifestations in Proteus syndrome: An unusual multisystemdevelopmental disorder |year=2012 |last1=Kaduthodil |first1=M |last2=Prasad |first2=D |last3=Lowe |first3=A |last4=Punekar |first4=A |last5=Yeung |first5=S |last6=Kay |first6=C |display-authors= 4 |journal=British Journal of Radiology |volume=85 |issue=1017 |pages=e793–9 |pmid=22514103 |pmc=3487101}}</ref> a congenital disorder causing disproportionate growth of skin, bone, and other tissues.<ref>{{cite journal |doi=10.1007/s11832-011-0350-6 |title=Assessment and management of the orthopedic and other complications of Proteus syndrome |year=2011 |last1=Tosi |first1=LL |last2=Sapp |first2=JC |last3=Allen |first3=ES |last4=O'Keefe |first4=RJ |last5=Biesecker |first5=LG |display-authors= 4 |journal=[[Journal of Children's Orthopaedics]] |volume=5 |issue=5 |pages=319–27 |pmid=23024722 |pmc=3179535}}</ref> | ||
*[[Asphyxiating thoracic dysplasia]],<ref>{{cite journal |doi=10.1136/jmg.40.6.431 |title=A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13 |year=2003 |last1=Morgan |first1=NV |journal=Journal of Medical Genetics |volume=40 |issue=6 |pages=431–5 |pmid=12807964 |last2=Bacchelli |first2=C |last3=Gissen |first3=P |last4=Morton |first4=J |last5=Ferrero |first5=GB |last6=Silengo |first6=M |last7=Labrune |first7=P |last8=Casteels |first8=I |last9=Hall |first9=C |last10=Cox |first10=P |last11=Kelly |first11=DA |last12=Trembath |first12=RC |last13=Scambler |first13=PJ |last14=Maher |first14=ER |last15=Goodman |first15=FR |last16=Johnson |first16=CA |pmc=1735497|display-authors=4 }}</ref> an autosomal recessive skeletal disorder with an estimated prevalence of between 1 in 100,000 and 1 in 130,000 live births.<ref>{{cite journal |first1=Theera |last1=Tongsong |first2=Pharuhus |last2=Chanprapaph |first3=Tidarat |last3=Thongpadungroj |pmid=10447085 |url=http://www.jultrasoundmed.org/cgi/pmidlookup?view=long&pmid=10447085 |title=Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome) |date=1999-08-01 |journal=Journal of Ultrasound in Medicine |volume=18 |issue=8 |pages=573–6|doi=10.7863/jum.1999.18.8.573 |s2cid=33532185 |url-access=subscription }}</ref> | *[[Asphyxiating thoracic dysplasia]],<ref>{{cite journal |doi=10.1136/jmg.40.6.431 |title=A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13 |year=2003 |last1=Morgan |first1=NV |journal=Journal of Medical Genetics |volume=40 |issue=6 |pages=431–5 |pmid=12807964 |last2=Bacchelli |first2=C |last3=Gissen |first3=P |last4=Morton |first4=J |last5=Ferrero |first5=GB |last6=Silengo |first6=M |last7=Labrune |first7=P |last8=Casteels |first8=I |last9=Hall |first9=C |last10=Cox |first10=P |last11=Kelly |first11=DA |last12=Trembath |first12=RC |last13=Scambler |first13=PJ |last14=Maher |first14=ER |last15=Goodman |first15=FR |last16=Johnson |first16=CA |pmc=1735497|display-authors=4 }}</ref> an [[autosomal recessive]] skeletal disorder with an estimated prevalence of between 1 in 100,000 and 1 in 130,000 live births.<ref>{{cite journal |first1=Theera |last1=Tongsong |first2=Pharuhus |last2=Chanprapaph |first3=Tidarat |last3=Thongpadungroj |pmid=10447085 |url=http://www.jultrasoundmed.org/cgi/pmidlookup?view=long&pmid=10447085 |title=Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome) |date=1999-08-01 |journal=Journal of Ultrasound in Medicine |volume=18 |issue=8 |pages=573–6|doi=10.7863/jum.1999.18.8.573 |s2cid=33532185 |url-access=subscription }}</ref> | ||
== Symptoms == | == Symptoms == | ||
Latest revision as of 03:51, 14 December 2025
Template:Short description Script error: No such module "Distinguish".
Multisystem developmental disorder (MSDD) is a term used by Stanley Greenspan to describe children under age 3 who exhibit signs of impaired communication as in autism, but with strong emotional attachments atypical of autism.Script error: No such module "Unsubst". It is described in the DC:0-3R manual as an optional diagnosis for children under two years of age.[1][2]
Other uses of the term
The term multisystem developmental disorder has also been used to describe various developmental disorders. These include:
- Alagille syndrome,[3] an autosomal dominant disorder with a wide range of features and manifestations. Its five most significant features are chronic cholestasis, a condition where bile cannot flow from the liver to the duodenum, occurring in 95% of cases; heart abnormalities (over 90%); butterfly vertebrae; posterior embryotoxon and a distinctive face (prominent forehead, deep-set eyes, and a pointed chin).[4]
- Rubinstein-Taybi syndrome,[5][6] a syndrome characterized by broad thumbs, facial abnormalities, and big toes alongside moderate to severe intellectual disability.[7]
- Williams syndrome,[8][9] a neurodevelopmental disorder characterized by a unique profile of strengths and deficits; most with the condition have mild intellectual disability but have grammatical and lexical abilities above what would be expected from their IQs.[10] They are hypersocial and empathetic, but social isolation is commonly experienced.[11]
- Proteus syndrome,[12] a congenital disorder causing disproportionate growth of skin, bone, and other tissues.[13]
- Asphyxiating thoracic dysplasia,[14] an autosomal recessive skeletal disorder with an estimated prevalence of between 1 in 100,000 and 1 in 130,000 live births.[15]
Symptoms
- Toe walking[16]
- Pragmatic speech problems[16]
- Clumsiness[16]
- Obsessions and rituals[16]
- Sensory issues[16]
- Disinterest in social interaction[16]
- Autistic characteristics[16]
References
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Further reading
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- Increasing Interaction with Children with Multisystem Developmental Disorder (MSDD), Developmental Delay Resources
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