Angelman syndrome

Revision as of 17:29, 4 September 2020 by MoisesRomo (talk | contribs)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search

WikiDoc Resources for Angelman syndrome

Articles

Most recent articles on Angelman syndrome

Most cited articles on Angelman syndrome

Review articles on Angelman syndrome

Articles on Angelman syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Angelman syndrome

Images of Angelman syndrome

Photos of Angelman syndrome

Podcasts & MP3s on Angelman syndrome

Videos on Angelman syndrome

Evidence Based Medicine

Cochrane Collaboration on Angelman syndrome

Bandolier on Angelman syndrome

TRIP on Angelman syndrome

Clinical Trials

Ongoing Trials on Angelman syndrome at Clinical Trials.gov

Trial results on Angelman syndrome

Clinical Trials on Angelman syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Angelman syndrome

NICE Guidance on Angelman syndrome

NHS PRODIGY Guidance

FDA on Angelman syndrome

CDC on Angelman syndrome

Books

Books on Angelman syndrome

News

Angelman syndrome in the news

Be alerted to news on Angelman syndrome

News trends on Angelman syndrome

Commentary

Blogs on Angelman syndrome

Definitions

Definitions of Angelman syndrome

Patient Resources / Community

Patient resources on Angelman syndrome

Discussion groups on Angelman syndrome

Patient Handouts on Angelman syndrome

Directions to Hospitals Treating Angelman syndrome

Risk calculators and risk factors for Angelman syndrome

Healthcare Provider Resources

Symptoms of Angelman syndrome

Causes & Risk Factors for Angelman syndrome

Diagnostic studies for Angelman syndrome

Treatment of Angelman syndrome

Continuing Medical Education (CME)

CME Programs on Angelman syndrome

International

Angelman syndrome en Espanol

Angelman syndrome en Francais

Business

Angelman syndrome in the Marketplace

Patents on Angelman syndrome

Experimental / Informatics

List of terms related to Angelman syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo, M.D.

Angelman Syndrome
ICD-10 Q93.5
ICD-9 759.89
OMIM 105830
DiseasesDB 712
MeSH D017204

Overview

Angelman syndrome, formerly known as "happy puppet syndrome", is a genetic disorder characterized by intelectual and development delay, seizures, puppet-like movement, unprovoked laughter/smiling, and excessive socialization with strangers.


Historical Perspective

"I happened to see an oil painting...called... "a Boy with a Puppet". The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children."[1]


Pathophysiology

Modes of Inheritance

Phenotype-Gene Relationships

Phenotype Gene Location
Angelman syndrome UBE3A 15q11-15q13


Clinical Features

Angelman syndrome is characterized by:

Other less common features are:


Differentiating Angelman syndrome from Other Diseases

Angelman syndrome must be differentiated from other diseases that cause intelectual and development delay, dysmorphic facies, and seizures, such as:

Diseases Type of motor abnormality Clinical findings Laboratory findings and diagnostic tests Radiographic findings
Spasticity Hypotonia Ataxia Dystonia
Leigh syndrome - - + +
Niemann-Pick disease type C - - + +
  • Abnormal liver function tests
  • Fibroblast cell culture with filipin staining
Infantile Refsum disease - + + - Elevated plasma VLCFA levels --
Adrenoleukodystrophy + - - -
  • Elevated plasma VLCFA levels
  • Molecular genetic testing for mutations in the ABCD1 gene
--
Zellweger syndrome - + - - --
Pyruvate dehydrogenase deficiency + + + -
  • Elevated lactate and pyruvate levels in blood and CSF
  • Abnormal PDH enzymatic activity in cultured fibroblasts
--
Arginase deficiency + - - - --
Holocarboxylase synthetase deficiency - + - - Elevated levels of:
  • Beta-hydroxyisovalerate
  • Beta-methylcrotonylglycine
  • Beta-hydroxypropionate
  • Methylcitrate
  • Tiglylglycine
--
Glutaric aciduria type 1 - - - + Elevated levels of:
Ataxia telangiectasia - - + - --
Pontocerebellar hypoplasias - + - - Genetic testing for PCH gene mutations
Metachromatic leukodystrophy - + + -
  • Deficient arylsulfatase A enzyme activity in leukocytes or cultured skin fibroblasts
--
Pelizaeus-Merzbacher + - + -
Angelman syndrome - - + -
  • Methylation studies and chromosome microarray to detect chromosome 15 anomalies and UBE3A mutations
--
Rett syndrome + - - +
  • Occurs almost exclusively in females
  • Normal development during first six months followed by regression and loss of milestones
  • Loss of speech capability
  • Stereotypic hand movements
  • Seizures
  • Autistic features
  • Clinical diagnosis
  • Genetic testing for MECP2 mutations
--
Lesch-Nyhan syndrome + - - + --
Miller-Dieker lissencephaly + + - -
  • Cytogenetic testing for 17p13.3 microdeletion
--
Dopa-responsive dystonia + - - +
  • Onset in early childhood
  • Symptoms worsen with fatigue and exercise
  • Positive response to a trial of levodopa
--


Epidemiology and Demographics

  • The prevalence of Angelman syndrome is approximately 5-7 per 100,000 individuals worldwide.[18]
  • The exact incidence of Angelman syndrome is unknown, but its estimated to be between 6-7 per 100,000 births .[19]

Age

Full spectrum of the disease appears usually before 3 years of age.[20]

Gender

Angelman syndrome affects men and women equally.[18][21]

Race

There is no racial predilection for Angelman syndrome.[22]

Risk Factors

There are no risk factors for developing Angelman syndrome, since most of the cases occur due to a de novo deletion and there is a very small chance for this condition to be hereditary transmitted.[23]

Screening

Prenatal screening of 15q11.2-q13 region mutations is possible through DNA and/or chromosomal/FISH analysis of fetal cells acquired by chorionic villus sampling or amniocentesis.[15]

Screening for Angelman syndrome-suspected patients can be made by the following tests:


Natural History, Complications & Prognosis


Diagnosis

Diagnostic Criteria

The Angelman Syndrome Foundation defined criteria for diagnosis in 1995, and updated his criteria in 2006.[33]

The diagnosis of Angelman syndrome according to the Scientific Advisory Committee of the US Angelman syndrome Foundation (Williams et al 2006) is based on:[34][35][36]

Symptoms

Angelman syndrome is usually asymptomatic.

Physical Examination

Laboratory Findings

Imaging Findings

EEG

  • The most common EEG patern observed in Angelman syndrome are signals of high amplitude rhythmic 2–3 Hz activity (delta rythmicity) primarly over the frontal regions with superimposed interictal epileptiform discharges.[39] Other patern found are rhythmic theta, and epileptiform spike-wave discharges.[40]

Treatment

Medical Therapy

Surgery

Prevention

  • There are no primary preventive measures available for Angelman syndrome.

Living with Angelman syndrome

Although a diagnosis of Angelman syndrome is life-changing, it does not need to be life-destroying. Individuals with Angelman Syndrome are generally happy and contented individuals, who like human contact and play. Angelman syndrome individuals exhibit a profound desire for personal interaction with others. Communication can be difficult at first, but as an AS child develops, there is a definite character and ability to make themselves understood. It is widely accepted that their understanding of communication directed to them is much larger than their ability to return conversation.[30]

See also

External links

References

  1. 1.0 1.1 Template:WhoNamedIt
  2. Angelman, Harry (2008). "'Puppet' Children A Report on Three Cases". Developmental Medicine & Child Neurology. 7 (6): 681–688. doi:10.1111/j.1469-8749.1965.tb07844.x. ISSN 0012-1622.
  3. 3.0 3.1 Jana NR (2012). "Understanding the pathogenesis of Angelman syndrome through animal models". Neural Plast. 2012: 710943. doi:10.1155/2012/710943. PMC 3399338. PMID 22830052.
  4. Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J (June 1998). "Mutation analysis of UBE3A in Angelman syndrome patients". Am. J. Hum. Genet. 62 (6): 1353–60. doi:10.1086/301877. PMC 1377156. PMID 9585605.
  5. Clayton-Smith, J; Pembrey, M E (1992). "Angelman syndrome". Journal of Medical Genetics. 29 (6): 412–415. doi:10.1136/jmg.29.6.412. ISSN 1468-6244.
  6. Van Buggenhout G, Fryns JP (November 2009). "Angelman syndrome (AS, MIM 105830)". Eur. J. Hum. Genet. 17 (11): 1367–73. doi:10.1038/ejhg.2009.67. PMC 2986680. PMID 19455185.
  7. 7.00 7.01 7.02 7.03 7.04 7.05 7.06 7.07 7.08 7.09 7.10 7.11 7.12 7.13
  8. Tan WH, Bird LM (December 2016). "Angelman syndrome: Current and emerging therapies in 2016". Am J Med Genet C Semin Med Genet. 172 (4): 384–401. doi:10.1002/ajmg.c.31536. PMID 27860204.
  9. Weeber E, Levenson J, Sweatt J (2002). "Molecular genetics of human cognition". Mol Interv. 2 (6): 376–91, 339. PMID 14993414.
  10. 10.0 10.1 Williams, Charles. "Angelman Syndrome". National Organization of Rare Diseases. Retrieved 06/02/2020. Check date values in: |access-date= (help)
  11. Van Buggenhout G, Fryns JP (November 2009). "Angelman syndrome (AS, MIM 105830)". Eur. J. Hum. Genet. 17 (11): 1367–73. doi:10.1038/ejhg.2009.67. PMC 2986680. PMID 19455185.
  12. Van Buggenhout G, Fryns JP (November 2009). "Angelman syndrome (AS, MIM 105830)". Eur. J. Hum. Genet. 17 (11): 1367–73. doi:10.1038/ejhg.2009.67. PMC 2986680. PMID 19455185.
  13. 13.0 13.1 13.2 13.3 13.4 Jenkins, Brian (2016). Deletion Syndromes/ Step up to USMLE step 2CK. Fort Worth, Texas: Wolters Kluwer. p. 291. ISBN 978-1496309747.
  14. 14.0 14.1 14.2 14.3 Guerrini R, Carrozzo R, Rinaldi R, Bonanni P (2003). "Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms". Paediatr Drugs. 5 (10): 647–61. doi:10.2165/00148581-200305100-00001. PMID 14510623.
  15. 15.00 15.01 15.02 15.03 15.04 15.05 15.06 15.07 15.08 15.09 15.10 15.11 15.12 15.13 15.14 15.15 15.16 15.17 15.18 15.19 15.20 15.21
  16. Van Buggenhout G, Fryns JP (November 2009). "Angelman syndrome (AS, MIM 105830)". Eur. J. Hum. Genet. 17 (11): 1367–73. doi:10.1038/ejhg.2009.67. PMC 2986680. PMID 19455185.
  17. 17.00 17.01 17.02 17.03 17.04 17.05 17.06 17.07 17.08 17.09 17.10 17.11 17.12 17.13 17.14 17.15 17.16 17.17 17.18 17.19 17.20 17.21 17.22 17.23 17.24 17.25 Sidorov, Michael S.; Deck, Gina M.; Dolatshahi, Marjan; Thibert, Ronald L.; Bird, Lynne M.; Chu, Catherine J.; Philpot, Benjamin D. (2017). "Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis". Journal of Neurodevelopmental Disorders. 9 (1). doi:10.1186/s11689-017-9195-8. ISSN 1866-1947.
  18. 18.0 18.1 Clayton-Smith, J; Pembrey, M E (1992). "Angelman syndrome". Journal of Medical Genetics. 29 (6): 412–415. doi:10.1136/jmg.29.6.412. ISSN 1468-6244.
  19. "www.angelman.org" (PDF).
  20. "Angelman syndrome - Symptoms and causes - Mayo Clinic".
  21. Luk HM (2016). "Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases". Case Rep Genet. 2016: 9790169. doi:10.1155/2016/9790169. PMC 4749774. PMID 26942024.
  22. Guerrini R, Carrozzo R, Rinaldi R, Bonanni P (2003). "Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms". Paediatr Drugs. 5 (10): 647–61. doi:10.2165/00148581-200305100-00001. PMID 14510623.
  23. 24.0 24.1 24.2 24.3 24.4 24.5 Guerrini R, Carrozzo R, Rinaldi R, Bonanni P (2003). "Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms". Paediatr Drugs. 5 (10): 647–61. doi:10.2165/00148581-200305100-00001. PMID 14510623.
  24. 25.0 25.1 25.2 25.3 25.4 25.5 "www.ncbi.nlm.nih.gov" (PDF).
  25. 26.0 26.1 Laan LA, den Boer AT, Hennekam RC, Renier WO, Brouwer OF (1996). "Angelman syndrome in adulthood". Am. J. Med. Genet. 66 (3): 356–60. doi:10.1002/(SICI)1096-8628(19961218)66:3%3C356::AID-AJMG21%3E3.0.CO;2-K. PMID 9072912.
  26. Laan LA, den Boer AT, Hennekam RC, Renier WO, Brouwer OF (December 1996). "Angelman syndrome in adulthood". Am. J. Med. Genet. 66 (3): 356–60. doi:10.1002/(SICI)1096-8628(19961218)66:3<356::AID-AJMG21>3.0.CO;2-K. PMID 9072912.
  27. Lossie A, Driscoll D. "Transmission of Angelman syndrome by an affected mother". Genet Med. 1 (6): 262–6. PMID 11258627.
  28. Lossie AC, Driscoll DJ (1999). "Transmission of Angelman syndrome by an affected mother". Genet. Med. 1 (6): 262–6. doi:10.1097/00125817-199909000-00004. PMID 11258627.
  29. 30.0 30.1 Andersen WH, Rasmussen RK, Strømme P (2001). "Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children". Logopedics, phoniatrics, vocology. 26 (1): 2–9. PMID 11432411.
  30. 31.0 31.1 Bonello D, Camilleri F, Calleja-Agius J (May 2017). "Angelman Syndrome: Identification and Management". Neonatal Netw. 36 (3): 142–151. doi:10.1891/0730-0832.36.3.142. PMID 28494826.
  31. Herbst, Jonathon; Byard, Roger W. (2012). "Sudden Death and Angelman Syndrome". Journal of Forensic Sciences. 57 (1): 257–259. doi:10.1111/j.1556-4029.2011.01901.x. ISSN 0022-1198.
  32. Williams CA, Angelman H, Clayton-Smith J; et al. (1995). "Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation". Am. J. Med. Genet. 56 (2): 237–8. doi:10.1002/ajmg.1320560224. PMID 7625452.
  33. Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J (March 2006). "Angelman syndrome 2005: updated consensus for diagnostic criteria". Am. J. Med. Genet. A. 140 (5): 413–8. doi:10.1002/ajmg.a.31074. PMID 16470747.
  34. 35.0 35.1 35.2 35.3 35.4 35.5 35.6 Van Buggenhout G, Fryns JP (November 2009). "Angelman syndrome (AS, MIM 105830)". Eur. J. Hum. Genet. 17 (11): 1367–73. doi:10.1038/ejhg.2009.67. PMC 2986680. PMID 19455185.
  35. Williams CA, Beaudet AL, Clayton-Smith J; et al. (2006). "Angelman syndrome 2005: updated consensus for diagnostic criteria". Am. J. Med. Genet. A. 140 (5): 413–8. doi:10.1002/ajmg.a.31074. PMID 16470747.
  36. Van Buggenhout G, Fryns JP (November 2009). "Angelman syndrome (AS, MIM 105830)". Eur. J. Hum. Genet. 17 (11): 1367–73. doi:10.1038/ejhg.2009.67. PMC 2986680. PMID 19455185.
  37. "Angelman syndrome - Symptoms and causes - Mayo Clinic".
  38. Laan, Laura A.E.M.; Vein, Alla A. (2005). "Angelman syndrome: is there a characteristic EEG?". Brain and Development. 27 (2): 80–87. doi:10.1016/j.braindev.2003.09.013. ISSN 0387-7604.
  39. Sidorov, Michael S.; Deck, Gina M.; Dolatshahi, Marjan; Thibert, Ronald L.; Bird, Lynne M.; Chu, Catherine J.; Philpot, Benjamin D. (2017). "Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis". Journal of Neurodevelopmental Disorders. 9 (1). doi:10.1186/s11689-017-9195-8. ISSN 1866-1947.
  40. 41.0 41.1 41.2 41.3 41.4 41.5 41.6 41.7 Margolis SS, Sell GL, Zbinden MA, Bird LM (July 2015). "Angelman Syndrome". Neurotherapeutics. 12 (3): 641–50. doi:10.1007/s13311-015-0361-y. PMC 4489961. PMID 26040994.
  41. 42.0 42.1 42.2 42.3 Bird LM (2014). "Angelman syndrome: review of clinical and molecular aspects". Appl Clin Genet. 7: 93–104. doi:10.2147/TACG.S57386. PMC 4036146. PMID 24876791.
  42. 43.0 43.1 43.2 43.3 43.4 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Dagli AI, Mueller J, Williams CA. PMID 20301323. Vancouver style error: initials (help); Missing or empty |title= (help)
  43. Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, Thiele EA (November 2009). "Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options". Epilepsia. 50 (11): 2369–76. doi:10.1111/j.1528-1167.2009.02108.x. PMID 19453717.
  44. Zhdanova IV, Wurtman RJ, Wagstaff J (1999). "Effects of a low dose of melatonin on sleep in children with Angelman syndrome". J. Pediatr. Endocrinol. Metab. 12 (1): 57–67. doi:10.1515/jpem.1999.12.1.57. PMID 10392349.
  45. Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ (December 2001). "Distinct phenotypes distinguish the molecular classes of Angelman syndrome". J. Med. Genet. 38 (12): 834–45. doi:10.1136/jmg.38.12.834. PMC 1734773. PMID 11748306.

Template:Chromosomal abnormalities

ca:Síndrome d'Angelman de:Angelman-Syndrom zh-classical:天使人症候群 he:תסמונת אנגלמן hu:Angelman-szindróma nl:Syndroom van Angelman sr:Ангелманов синдром fi:Angelmanin oireyhtymä sv:Angelmans syndrom


Template:WikiDoc Sources