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intellectual deficiency

MedGen UID:
833041
•Concept ID:
CN228659
•
Finding

Professional guidelines

PubMed

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P
Eur J Paediatr Neurol 2021 Jul;33:75-85. Epub 2021 May 26 doi: 10.1016/j.ejpn.2021.05.010. PMID: 34102571
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E
J Med Genet 2020 May;57(5):301-307. Epub 2018 Oct 4 doi: 10.1136/jmedgenet-2018-105389. PMID: 30287593
Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome.
Lim C, Jung ST, Shin CH, Park MS, Yoo WJ, Chung CY, Choi IH, Ko JM, Cho TJ
Clin Orthop Surg 2019 Dec;11(4):474-481. Epub 2019 Nov 12 doi: 10.4055/cios.2019.11.4.474. PMID: 31788172Free PMC Article

Recent clinical studies

Etiology

Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.
Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E
J Med Genet 2020 May;57(5):301-307. Epub 2018 Oct 4 doi: 10.1136/jmedgenet-2018-105389. PMID: 30287593
Myhre syndrome.
Le Goff C, Michot C, Cormier-Daire V
Clin Genet 2014 Jun;85(6):503-13. Epub 2014 Apr 2 doi: 10.1111/cge.12365. PMID: 24580733
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Diagnosis

Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.
Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
Insights in Developmental Coordination Disorder.
Farmer M, Echenne B, Drouin R, Bentourkia M
Curr Pediatr Rev 2017;13(2):111-119. doi: 10.2174/1573396313666170726113550. PMID: 28745216
X-linked mental deficiency.
des Portes V
Handb Clin Neurol 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X. PMID: 23622180
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Therapy

The Neurological Manifestations of Phelan-McDermid Syndrome.
Frank Y
Pediatr Neurol 2021 Sep;122:59-64. Epub 2021 Jun 16 doi: 10.1016/j.pediatrneurol.2021.06.002. PMID: 34325981
Early-Onset Schizophrenia in a paediatric population of French psychiatric and medico-social care centres: A cross sectional study.
Dor-Nedonsel E, Menard ML, Fernandez A, Sakarovitch C, Fontas E, Salle-Collemiche X, Poinso F, Tosello AL, Maria F, Manera V, Askenazy F, Thümmler S
PLoS One 2020;15(7):e0236241. Epub 2020 Jul 27 doi: 10.1371/journal.pone.0236241. PMID: 32716957Free PMC Article
Treatment of first-episode psychosis in patients with autism-spectrum disorder and intellectual deficiency.
Garel N, Joober R
J Psychiatry Neurosci 2019 Nov 1;44(6):E31-E32. doi: 10.1503/jpn.190081. PMID: 31657537Free PMC Article
Multimodal Outcome at 7 Years of Age after Neonatal Arterial Ischemic Stroke.
Chabrier S, Peyric E, Drutel L, Deron J, Kossorotoff M, Dinomais M, Lazaro L, Lefranc J, Thébault G, Dray G, Fluss J, Renaud C, Nguyen The Tich S; Accident Vasculaire Cérébral du nouveau-né (AVCnn; [Neonatal Stroke]) Study Group
J Pediatr 2016 May;172:156-161.e3. Epub 2016 Mar 9 doi: 10.1016/j.jpeds.2016.01.069. PMID: 26968833
West syndrome in tuberous sclerosis complex.
Husain AM, Foley CM, Legido A, Chandler DA, Miles DK, Grover WD
Pediatr Neurol 2000 Sep;23(3):233-5. doi: 10.1016/s0887-8994(00)00186-7. PMID: 11033286

Prognosis

Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.
Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
Ethical and public policy challenges for pharmacogenomics.
Gershon ES, Alliey-Rodriguez N, Grennan K
Dialogues Clin Neurosci 2014 Dec;16(4):567-74. doi: 10.31887/DCNS.2014.16.4/egershon. PMID: 25733960Free PMC Article
Myhre syndrome.
Le Goff C, Michot C, Cormier-Daire V
Clin Genet 2014 Jun;85(6):503-13. Epub 2014 Apr 2 doi: 10.1111/cge.12365. PMID: 24580733
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Clinical prediction guides

Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.
Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction.
Cheng D, Yuan S, Hu L, Yi D, Luo K, Gong F, Lu C, Lu G, Lin G, Tan YQ
J Assist Reprod Genet 2021 Jan;38(1):243-250. Epub 2020 Oct 22 doi: 10.1007/s10815-020-01986-1. PMID: 33094427Free PMC Article
ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F
Epileptic Disord 2020 Jun 1;22(3):317-322. doi: 10.1684/epd.2020.1166. PMID: 32597767
Ethical and public policy challenges for pharmacogenomics.
Gershon ES, Alliey-Rodriguez N, Grennan K
Dialogues Clin Neurosci 2014 Dec;16(4):567-74. doi: 10.31887/DCNS.2014.16.4/egershon. PMID: 25733960Free PMC Article
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Recent systematic reviews

Long-term developmental condition following neonatal arterial ischemic stroke: A systematic review.
Giraud A, Stephens CM, Fluss J, Kossorotoff M, Walsh BH, Chabrier S
Arch Pediatr 2023 Nov;30(8):600-606. Epub 2023 Oct 5 doi: 10.1016/j.arcped.2023.07.007. PMID: 37805299
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM, Guerra-Peixe M, Macedo-Souza LI, Pedreira CC, Gurgel-Giannetti J, Monteiro FP, Ramos L, Costa LA, Crippa ACS, Lourenco CM, Pachito DV, Sukys-Claudino L, Gaspar LS, Antoniuk SA, Dutra LPS, Diniz SSL, Pires RB, Garzon E, Kok F
Eur J Paediatr Neurol 2021 Sep;34:7-13. Epub 2021 Jun 21 doi: 10.1016/j.ejpn.2021.05.013. PMID: 34271245

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