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SYNCRIP-related neurodevelopmental disorder

MedGen UID:
1049887
•Concept ID:
CN376111
•
Disease or Syndrome
Monarch Initiative: MONDO:0800456

Definition

Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces. [from MONDO]

Professional guidelines

PubMed

Evidence-based consensus guidelines for the management of catatonia: Recommendations from the British Association for Psychopharmacology.
Rogers JP, Oldham MA, Fricchione G, Northoff G, Ellen Wilson J, Mann SC, Francis A, Wieck A, Elizabeth Wachtel L, Lewis G, Grover S, Hirjak D, Ahuja N, Zandi MS, Young AH, Fone K, Andrews S, Kessler D, Saifee T, Gee S, Baldwin DS, David AS
J Psychopharmacol 2023 Apr;37(4):327-369. Epub 2023 Apr 11 doi: 10.1177/02698811231158232. PMID: 37039129Free PMC Article
The World Federation of ADHD International Consensus Statement: 208 Evidence-based conclusions about the disorder.
Faraone SV, Banaschewski T, Coghill D, Zheng Y, Biederman J, Bellgrove MA, Newcorn JH, Gignac M, Al Saud NM, Manor I, Rohde LA, Yang L, Cortese S, Almagor D, Stein MA, Albatti TH, Aljoudi HF, Alqahtani MMJ, Asherson P, Atwoli L, Bölte S, Buitelaar JK, Crunelle CL, Daley D, Dalsgaard S, Döpfner M, Espinet S, Fitzgerald M, Franke B, Gerlach M, Haavik J, Hartman CA, Hartung CM, Hinshaw SP, Hoekstra PJ, Hollis C, Kollins SH, Sandra Kooij JJ, Kuntsi J, Larsson H, Li T, Liu J, Merzon E, Mattingly G, Mattos P, McCarthy S, Mikami AY, Molina BSG, Nigg JT, Purper-Ouakil D, Omigbodun OO, Polanczyk GV, Pollak Y, Poulton AS, Rajkumar RP, Reding A, Reif A, Rubia K, Rucklidge J, Romanos M, Ramos-Quiroga JA, Schellekens A, Scheres A, Schoeman R, Schweitzer JB, Shah H, Solanto MV, Sonuga-Barke E, Soutullo C, Steinhausen HC, Swanson JM, Thapar A, Tripp G, van de Glind G, van den Brink W, Van der Oord S, Venter A, Vitiello B, Walitza S, Wang Y
Neurosci Biobehav Rev 2021 Sep;128:789-818. Epub 2021 Feb 4 doi: 10.1016/j.neubiorev.2021.01.022. PMID: 33549739Free PMC Article
Clinical Practice Guideline for the Diagnosis, Evaluation, and Treatment of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents.
Wolraich ML, Hagan JF Jr, Allan C, Chan E, Davison D, Earls M, Evans SW, Flinn SK, Froehlich T, Frost J, Holbrook JR, Lehmann CU, Lessin HR, Okechukwu K, Pierce KL, Winner JD, Zurhellen W; SUBCOMMITTEE ON CHILDREN AND ADOLESCENTS WITH ATTENTION-DEFICIT/HYPERACTIVE DISORDER
Pediatrics 2019 Oct;144(4) doi: 10.1542/peds.2019-2528. PMID: 31570648Free PMC Article

Recent clinical studies

Etiology

Sex and gender in neurodevelopmental conditions.
Bölte S, Neufeld J, Marschik PB, Williams ZJ, Gallagher L, Lai MC
Nat Rev Neurol 2023 Mar;19(3):136-159. Epub 2023 Feb 6 doi: 10.1038/s41582-023-00774-6. PMID: 36747038Free PMC Article
Prenatal Environment and Neurodevelopmental Disorders.
Doi M, Usui N, Shimada S
Front Endocrinol (Lausanne) 2022;13:860110. Epub 2022 Mar 15 doi: 10.3389/fendo.2022.860110. PMID: 35370942Free PMC Article
Maternal immune activation and neuroinflammation in human neurodevelopmental disorders.
Han VX, Patel S, Jones HF, Dale RC
Nat Rev Neurol 2021 Sep;17(9):564-579. Epub 2021 Aug 2 doi: 10.1038/s41582-021-00530-8. PMID: 34341569
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Turner TN, Wilfert AB, Bakken TE, Bernier RA, Pepper MR, Zhang Z, Torene RI, Retterer K, Eichler EE
Am J Hum Genet 2019 Dec 5;105(6):1274-1285. Epub 2019 Nov 27 doi: 10.1016/j.ajhg.2019.11.003. PMID: 31785789Free PMC Article
Attention deficit hyperactivity disorder.
Thapar A, Cooper M
Lancet 2016 Mar 19;387(10024):1240-50. Epub 2015 Sep 17 doi: 10.1016/S0140-6736(15)00238-X. PMID: 26386541

Diagnosis

Infant microbes and metabolites point to childhood neurodevelopmental disorders.
Ahrens AP, Hyötyläinen T, Petrone JR, Igelström K, George CD, Garrett TJ, Orešič M, Triplett EW, Ludvigsson J
Cell 2024 Apr 11;187(8):1853-1873.e15. Epub 2024 Apr 3 doi: 10.1016/j.cell.2024.02.035. PMID: 38574728
Sex and gender in neurodevelopmental conditions.
Bölte S, Neufeld J, Marschik PB, Williams ZJ, Gallagher L, Lai MC
Nat Rev Neurol 2023 Mar;19(3):136-159. Epub 2023 Feb 6 doi: 10.1038/s41582-023-00774-6. PMID: 36747038Free PMC Article
Neurodevelopmental disorders-the history and future of a diagnostic concept
.
Morris-Rosendahl DJ, Crocq MA
Dialogues Clin Neurosci 2020 Mar;22(1):65-72. doi: 10.31887/DCNS.2020.22.1/macrocq. PMID: 32699506Free PMC Article
Neurodevelopmental disorders.
Thapar A, Cooper M, Rutter M
Lancet Psychiatry 2017 Apr;4(4):339-346. Epub 2016 Dec 13 doi: 10.1016/S2215-0366(16)30376-5. PMID: 27979720
Attention deficit hyperactivity disorder.
Thapar A, Cooper M
Lancet 2016 Mar 19;387(10024):1240-50. Epub 2015 Sep 17 doi: 10.1016/S0140-6736(15)00238-X. PMID: 26386541

Therapy

The Effects of Vitamin Therapy on ASD and ADHD: A Narrative Review.
Poudineh M, Parvin S, Omidali M, Nikzad F, Mohammadyari F, Sadeghi Poor Ranjbar F, Rasouli F, Nanbakhsh S, Olangian-Tehrani S
CNS Neurol Disord Drug Targets 2023;22(5):711-735. doi: 10.2174/1871527321666220517205813. PMID: 35585808
Gut microbiota and probiotic therapy in ADHD: A review of current knowledge.
Kalenik A, Kardaś K, Rahnama A, Sirojć K, Wolańczyk T
Prog Neuropsychopharmacol Biol Psychiatry 2021 Aug 30;110:110277. Epub 2021 Feb 6 doi: 10.1016/j.pnpbp.2021.110277. PMID: 33561522
Practical considerations for the evaluation and management of Attention Deficit Hyperactivity Disorder (ADHD) in adults.
Weibel S, Menard O, Ionita A, Boumendjel M, Cabelguen C, Kraemer C, Micoulaud-Franchi JA, Bioulac S, Perroud N, Sauvaget A, Carton L, Gachet M, Lopez R
Encephale 2020 Feb;46(1):30-40. Epub 2019 Oct 11 doi: 10.1016/j.encep.2019.06.005. PMID: 31610922
The Benefits of Breast Feeding.
Shamir R
Nestle Nutr Inst Workshop Ser 2016;86:67-76. Epub 2016 Jun 23 doi: 10.1159/000442724. PMID: 27336781
Attention deficit hyperactivity disorder.
Thapar A, Cooper M
Lancet 2016 Mar 19;387(10024):1240-50. Epub 2015 Sep 17 doi: 10.1016/S0140-6736(15)00238-X. PMID: 26386541

Prognosis

Infant microbes and metabolites point to childhood neurodevelopmental disorders.
Ahrens AP, Hyötyläinen T, Petrone JR, Igelström K, George CD, Garrett TJ, Orešič M, Triplett EW, Ludvigsson J
Cell 2024 Apr 11;187(8):1853-1873.e15. Epub 2024 Apr 3 doi: 10.1016/j.cell.2024.02.035. PMID: 38574728
Immune Dysregulation in Autism Spectrum Disorder: What Do We Know about It?
Robinson-Agramonte MLA, Noris García E, Fraga Guerra J, Vega Hurtado Y, Antonucci N, Semprún-Hernández N, Schultz S, Siniscalco D
Int J Mol Sci 2022 Mar 11;23(6) doi: 10.3390/ijms23063033. PMID: 35328471Free PMC Article
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z
Genet Med 2021 May;23(5):888-899. Epub 2021 Feb 17 doi: 10.1038/s41436-020-01075-9. PMID: 33597769
Attention deficit hyperactivity disorder.
Thapar A, Cooper M
Lancet 2016 Mar 19;387(10024):1240-50. Epub 2015 Sep 17 doi: 10.1016/S0140-6736(15)00238-X. PMID: 26386541
The Cerebellum and Neurodevelopmental Disorders.
Stoodley CJ
Cerebellum 2016 Feb;15(1):34-37. doi: 10.1007/s12311-015-0715-3. PMID: 26298473Free PMC Article

Clinical prediction guides

Infant microbes and metabolites point to childhood neurodevelopmental disorders.
Ahrens AP, Hyötyläinen T, Petrone JR, Igelström K, George CD, Garrett TJ, Orešič M, Triplett EW, Ludvigsson J
Cell 2024 Apr 11;187(8):1853-1873.e15. Epub 2024 Apr 3 doi: 10.1016/j.cell.2024.02.035. PMID: 38574728
Neurodevelopmental disorders-the history and future of a diagnostic concept
.
Morris-Rosendahl DJ, Crocq MA
Dialogues Clin Neurosci 2020 Mar;22(1):65-72. doi: 10.31887/DCNS.2020.22.1/macrocq. PMID: 32699506Free PMC Article
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Turner TN, Wilfert AB, Bakken TE, Bernier RA, Pepper MR, Zhang Z, Torene RI, Retterer K, Eichler EE
Am J Hum Genet 2019 Dec 5;105(6):1274-1285. Epub 2019 Nov 27 doi: 10.1016/j.ajhg.2019.11.003. PMID: 31785789Free PMC Article
Diagnosis and Treatment of Cyclothymia: The "Primacy" of Temperament.
Perugi G, Hantouche E, Vannucchi G
Curr Neuropharmacol 2017 Apr;15(3):372-379. doi: 10.2174/1570159X14666160616120157. PMID: 28503108Free PMC Article
Neurodevelopmental disorders.
Thapar A, Cooper M, Rutter M
Lancet Psychiatry 2017 Apr;4(4):339-346. Epub 2016 Dec 13 doi: 10.1016/S2215-0366(16)30376-5. PMID: 27979720

Recent systematic reviews

Cannabis and cannabinoid use in autism spectrum disorder: a systematic review.
Silva EAD Junior, Medeiros WMB, Torro N, Sousa JMM, Almeida IBCM, Costa FBD, Pontes KM, Nunes ELG, Rosa MDD, Albuquerque KLGD
Trends Psychiatry Psychother 2022 Jun 13;44:e20200149. doi: 10.47626/2237-6089-2020-0149. PMID: 34043900Free PMC Article
Behavioural and cognitive behavioural therapy for obsessive compulsive disorder (OCD) in individuals with autism spectrum disorder (ASD).
Elliott SJ, Marshall D, Morley K, Uphoff E, Kumar M, Meader N
Cochrane Database Syst Rev 2021 Sep 3;9(9):CD013173. doi: 10.1002/14651858.CD013173.pub2. PMID: 34693989Free PMC Article
Fruit and vegetables intake in adolescents and mental health: a systematic review.
Głąbska D, Guzek D, Groele B, Gutkowska K
Rocz Panstw Zakl Hig 2020;71(1):15-25. doi: 10.32394/rpzh.2019.0097. PMID: 32227780
ADHD in children and young people: prevalence, care pathways, and service provision.
Sayal K, Prasad V, Daley D, Ford T, Coghill D
Lancet Psychiatry 2018 Feb;5(2):175-186. Epub 2017 Oct 9 doi: 10.1016/S2215-0366(17)30167-0. PMID: 29033005
Neurobehavioural effects of developmental toxicity.
Grandjean P, Landrigan PJ
Lancet Neurol 2014 Mar;13(3):330-8. Epub 2014 Feb 17 doi: 10.1016/S1474-4422(13)70278-3. PMID: 24556010Free PMC Article

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