Multisystem developmental disorder explained

Multisystem developmental disorder should not 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. 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
• Clumsiness
• Obsessions and rituals
• Sensory issues
• Disinterest in social interaction
• Autistic characteristics

Further reading

• 10.1023/A:1017511714145 . 2001 . Scheeringa . MS . Child Psychiatry and Human Development . 32 . 71–89 . 11579660 . The differential diagnosis of impaired reciprocal social interaction in children: A review of disorders . 1. 43311652 .
• Increasing Interaction with Children with Multisystem Developmental Disorder (MSDD), Developmental Delay Resources
• S . Wieder . 1996 . Integrated treatment approaches for young children with multisystem developmental disorder . Infants & Young Children . 8 . 3 . 24–34 . 10.1097/00001163-199601000-00005. 145177134 .

Notes and References

1. 10.1037/a0021026 . 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 . 2011 . Egger . HL . Emde . RN . . 66 . 2 . 95–106 . 21142337 . 3064438.
2. Oztop . D . R . Behavioral, interactional and developmental symptomatology in toddlers of depressed mothers: A preliminary clinical study within the DC:0-3 framework . . 49 . 2 . 171–8 . 2007 . 17907517 . Uslu .
3. 10.1002/ajmg.10608 . Craniosynostosis in Alagille syndrome . 2002 . Kamath . BM . Stolle . C . Bason . L . Colliton . RP . Piccoli . DA . Spinner . NB . Krantz . ID . 4 . American Journal of Medical Genetics . 112 . 2 . 176–80 . 12244552. free .
4. 10.1038/ejhg.2011.181 . Alagille syndrome: Pathogenesis, diagnosis and management . 2011 . Turnpenny . PD . Ellard . S . European Journal of Human Genetics . 20 . 3 . 251–7 . 21934706 . 3283172.
5. 8726717 . 1996 . Hendrix . JD Jr . Greer . KE . Rubinstein-Taybi syndrome with multiple flamboyant keloids . 57 . 5 . 346–8 . Cutis; Cutaneous Medicine for the Practitioner.
6. Web site: Rubinstein-Taybi syndrome: MedlinePlus Genetics .
7. 3629765 . 1987 . Melekos . M . Barbalias . G . Asbach . HW . Rubinstein-Taybi syndrome . 30 . 3 . 238–9 . Urology . 10.1016/0090-4295(87)90242-1.
8. 10.1111/j.1399-0004.1998.tb03715.x . A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome . 2008 . Rio . T . Urbán . Z . Csiszár . K . Boyd . CD . Clinical Genetics . 54 . 2 . 129–35 . 9761391. 12793159 .
9. 10.1007/s00508-006-0658-2 . Echocardiographic findings in patients with Williams-Beuren syndrome . 2006 . Scheiber . D . Fekete . G . Urban . Z . Tarjan . I . Balaton . G . Kosa . L . Nagy . K . Vajo . Z . 4 . Wiener Klinische Wochenschrift . 118 . 17–18 . 538–42 . 17009066. 41861608 .
10. Book: Bellugi . U . Wang . PP . Jernigan . TL . Williams Syndrome: An Unusual Neuropsychological Profile . Broman . SH . Grafman . J . 1994 . Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function . 23–56 . Taylor & Francis . 978-0-8058-1180-3.
11. Book: Williams-Beuren Syndrome: Research, Evaluation, and Treatment. 237. 978-0-8018-8212-8. Morris. CA. Lenhoff. HM. Wang. PP . 2006-02-13. JHU Press .
12. 10.1259/bjr/92343528 . Imaging manifestations in Proteus syndrome: An unusual multisystemdevelopmental disorder . 2012 . Kaduthodil . M . Prasad . D . Lowe . A . Punekar . A . Yeung . S . Kay . C . 4 . British Journal of Radiology . 85 . 1017 . e793–9 . 22514103 . 3487101.
13. 10.1007/s11832-011-0350-6 . Assessment and management of the orthopedic and other complications of Proteus syndrome . 2011 . Tosi . LL . Sapp . JC . Allen . ES . O'Keefe . RJ . Biesecker . LG . 4 . . 5 . 5 . 319–27 . 23024722 . 3179535.
14. 10.1136/jmg.40.6.431 . A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13 . 2003 . Morgan . NV . Journal of Medical Genetics . 40 . 6 . 431–5 . 12807964 . Bacchelli . C . Gissen . P . Morton . J . Ferrero . GB . Silengo . M . Labrune . P . Casteels . I . Hall . C . Cox . P . Kelly . DA . Trembath . RC . Scambler . PJ . Maher . ER . Goodman . FR . Johnson . CA . 1735497. 4 .
15. Theera . Tongsong . Pharuhus . Chanprapaph . Tidarat . Thongpadungroj . 10447085 . Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome) . 1999-08-01 . Journal of Ultrasound in Medicine . 18 . 8 . 573–6. 10.7863/jum.1999.18.8.573 . 33532185 .
16. Book: Woliver, Robbie. Alphabet Kids. 2009. Jessica Kingsley Publishers. 295 .