Wikipedia

Multisystem developmental disorder

Not to be confused with Multiple complex developmental disorder.

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.[citation needed] 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

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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

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  • 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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  1. ^ Egger, HL; Emde, RN (2011). "Developmentally sensitive diagnostic criteria for mental health disorders in early childhood: The diagnostic and statistical manual of mental disorders—IV, the research diagnostic criteria—preschool age, and the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood—Revised". American Psychologist. 66 (2): 95–106. doi:10.1037/a0021026. PMC 3064438. PMID 21142337.
  2. ^ Oztop, D; Uslu, R (2007). "Behavioral, interactional and developmental symptomatology in toddlers of depressed mothers: A preliminary clinical study within the DC:0-3 framework". The Turkish Journal of Pediatrics. 49 (2): 171–8. PMID 17907517.
  3. ^ Kamath, BM; Stolle, C; Bason, L; Colliton, RP; et al. (2002). "Craniosynostosis in Alagille syndrome". American Journal of Medical Genetics. 112 (2): 176–80. doi:10.1002/ajmg.10608. PMID 12244552.
  4. ^ Turnpenny, PD; Ellard, S (2011). "Alagille syndrome: Pathogenesis, diagnosis and management". European Journal of Human Genetics. 20 (3): 251–7. doi:10.1038/ejhg.2011.181. PMC 3283172. PMID 21934706.
  5. ^ Hendrix, JD Jr; Greer, KE (1996). "Rubinstein-Taybi syndrome with multiple flamboyant keloids". Cutis; Cutaneous Medicine for the Practitioner. 57 (5): 346–8. PMID 8726717.
  6. ^ "Rubinstein-Taybi syndrome: MedlinePlus Genetics".
  7. ^ Melekos, M; Barbalias, G; Asbach, HW (1987). "Rubinstein-Taybi syndrome". Urology. 30 (3): 238–9. doi:10.1016/0090-4295(87)90242-1. PMID 3629765.
  8. ^ Rio, T; Urbán, Z; Csiszár, K; Boyd, CD (2008). "A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome". Clinical Genetics. 54 (2): 129–35. doi:10.1111/j.1399-0004.1998.tb03715.x. PMID 9761391. S2CID 12793159.
  9. ^ Scheiber, D; Fekete, G; Urban, Z; Tarjan, I; et al. (2006). "Echocardiographic findings in patients with Williams-Beuren syndrome". Wiener Klinische Wochenschrift. 118 (17–18): 538–42. doi:10.1007/s00508-006-0658-2. PMID 17009066. S2CID 41861608.
  10. ^ Bellugi, U; Wang, PP; Jernigan, TL (1994). "Williams Syndrome: An Unusual Neuropsychological Profile". In Broman, SH; Grafman, J (eds.). Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function. Taylor & Francis. pp. 23–56. ISBN 978-0-8058-1180-3.
  11. ^ Morris, CA; Lenhoff, HM; Wang, PP (2006-02-13). Williams-Beuren Syndrome: Research, Evaluation, and Treatment. JHU Press. p. 237. ISBN 978-0-8018-8212-8.
  12. ^ Kaduthodil, M; Prasad, D; Lowe, A; Punekar, A; et al. (2012). "Imaging manifestations in Proteus syndrome: An unusual multisystemdevelopmental disorder". British Journal of Radiology. 85 (1017): e793–9. doi:10.1259/bjr/92343528. PMC 3487101. PMID 22514103.
  13. ^ Tosi, LL; Sapp, JC; Allen, ES; O'Keefe, RJ; et al. (2011). "Assessment and management of the orthopedic and other complications of Proteus syndrome". Journal of Children's Orthopaedics. 5 (5): 319–27. doi:10.1007/s11832-011-0350-6. PMC 3179535. PMID 23024722.
  14. ^ Morgan, NV; Bacchelli, C; Gissen, P; Morton, J; et al. (2003). "A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13". Journal of Medical Genetics. 40 (6): 431–5. doi:10.1136/jmg.40.6.431. PMC 1735497. PMID 12807964.
  15. ^ Tongsong, Theera; Chanprapaph, Pharuhus; Thongpadungroj, Tidarat (1999-08-01). "Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome)". Journal of Ultrasound in Medicine. 18 (8): 573–6. doi:10.7863/jum.1999.18.8.573. PMID 10447085. S2CID 33532185.
  16. ^ a b c d e f g Woliver, Robbie (2009). Alphabet Kids. Jessica Kingsley Publishers. p. 295.

Further reading

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