ADNP syndrome: Difference between revisions
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== References == |
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[[Category:Genetic diseases and disorders]] |
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[[Category:Rare syndromes]] |
[[Category:Rare syndromes]] |
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Revision as of 16:53, 19 April 2023
| ADNP syndrome | |
|---|---|
| Other names | Helsmoortel Van der Aa syndrome, HVDAS |
| Specialty | Medical genetics, pediatrics |
| Symptoms | Delayed development, characteristic physical features, mild to moderate intellectual disability |
| Duration | Lifelong |
| Causes | Mutation(s) in ADNP gene |
| Diagnostic method | Genetic testing |
| Treatment | Physical therapy, Occupational therapy, Speech therapy, Educational support |
| Frequency | Fewer than 50,000 people in the U.S. have this disease[1] |
ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome (HVDAS), is a non-inherited genetic condition caused by mutations in the activity-dependent neuroprotector homeobox (ADNP) gene.[2][3] By June 2022, just over 275 children have been registered in the ADNP Kids Research Foundation Contact Registry.[4]
Signs and symptoms
Symptoms of ADNP syndrome are variable, but the following are typical characteristics:[5]
- Hypotonia
- Severe speech and motor delay
- Mild-to-severe intellectual disability
- Characteristic facial features (prominent forehead, high hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip)
- Autism spectrum disorder
Other commonly observed traits include:[5]
- Behavioral problems
- Sleep disturbance
- Brain abnormalities
- Seizures
- Feeding issues
- Gastrointestinal problems
- Visual dysfunction (hypermetropia, strabismus, cortical visual impairment)
- Musculoskeletal anomalies
- Endocrine issues including short stature and hormonal deficiencies
- Cardiac and urinary tract anomalies
- Hearing loss
Genetics
The condition is caused by non-inherited (de novo) mutations in the ADNP gene.[6] This gene is located on the long arm of chromosome 20 (20q13.13).
ADNP has been associated with abnormalities in the autophagy pathway in schizophrenia.[7]
Pathogenesis
The ADNP gene is involved in the autophagy pathway. Its precise role in this process is under active investigation.[citation needed]
Diagnosis
The diagnosis of ADNP syndrome is established through genetic testing to identify one or more pathogenic variants on the ADNP gene.[5]
Treatment
Treatment is symptomatic. This may include speech, occupational, and physical therapy and specialized learning programs depending on individual needs.[5]
Treatment of neuropsychiatric features may also be needed. Nutritional support is sometimes needed. Treatment of the ophthalmologic and cardiac finding that may co-exist is also indicated.[5]
A small study by researchers at the Seaver Autism Center for Research and Treatment at Mount Sinai Hospital suggests that low-dose ketamine may be effective in treating clinical symptoms in children diagnosed with ADNP syndrome.[8]
History
The gene was first cloned in 1998, and the syndrome was first described in 2014.[9] The first ADNP Syndrome Family Conference and Scientific Symposium was held on November 3, 2019 at the UCLA campus in Los Angeles, California.[10]
See also
References
- ^ "ADNP syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2023-04-18.
- ^ Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, et al. (March 2018). "Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP". Biological Psychiatry. 85 (4): 287–297. doi:10.1016/j.biopsych.2018.02.1173. PMC 6139063. PMID 29724491.
- ^ "ADNP syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-09-07.
- ^ "ADNP syndrome (Helsmoortel-VanderAa syndrome (HVDAS))" (PDF). rarechromo.org. Unique. 2022. Retrieved April 19, 2023.
{{cite web}}: CS1 maint: url-status (link) - ^ a b c d e Van Dijck, Anke; Vandeweyer, Geert; Kooy, Frank (1993), Adam, Margaret P.; Mirzaa, Ghayda M.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "ADNP-Related Disorder", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 27054228, retrieved 2023-04-18
- ^ "ADNP syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2023-04-18.
- ^ Sragovich S, Merenlender-Wagner A, Gozes I (November 2017). "ADNP Plays a Key Role in Autophagy: From Autism to Schizophrenia and Alzheimer's Disease". BioEssays. 39 (11): 1700054. doi:10.1002/bies.201700054. PMID 28940660. S2CID 21961534.
- ^ Hospital, The Mount Sinai. "New study suggests ketamine may be an effective treatment for children with ADNP syndrome". medicalxpress.com. Retrieved 2022-09-07.
- ^ Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N (April 2014). "A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP". Nature Genetics. 46 (4): 380–4. doi:10.1038/ng.2899. PMC 3990853. PMID 24531329.
- ^ "HIGHLIGHTS- ADNP Syndrome Family Conference". ADNP Kids Research Foundation. Retrieved 2023-04-19.