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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

Differential Diagnosis of Autism and Other Neurodevelopmental Disorders.
Olson L, Bishop S, Thurm A
Pediatr Clin North Am 2024 Apr;71(2):157-177. Epub 2024 Jan 5 doi: 10.1016/j.pcl.2023.12.004. PMID: 38423714Free 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

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
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
Neurodevelopmental Follow-up of Preterm Infants: What Is New?
McGowan EC, Vohr BR
Pediatr Clin North Am 2019 Apr;66(2):509-523. Epub 2019 Feb 1 doi: 10.1016/j.pcl.2018.12.015. PMID: 30819351
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

Differential Diagnosis of Autism and Other Neurodevelopmental Disorders.
Olson L, Bishop S, Thurm A
Pediatr Clin North Am 2024 Apr;71(2):157-177. Epub 2024 Jan 5 doi: 10.1016/j.pcl.2023.12.004. PMID: 38423714Free 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 Follow-up of Preterm Infants: What Is New?
McGowan EC, Vohr BR
Pediatr Clin North Am 2019 Apr;66(2):509-523. Epub 2019 Feb 1 doi: 10.1016/j.pcl.2018.12.015. PMID: 30819351
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

Acetaminophen Use During Pregnancy and Children's Risk of Autism, ADHD, and Intellectual Disability.
Ahlqvist VH, Sjöqvist H, Dalman C, Karlsson H, Stephansson O, Johansson S, Magnusson C, Gardner RM, Lee BK
JAMA 2024 Apr 9;331(14):1205-1214. doi: 10.1001/jama.2024.3172. PMID: 38592388Free PMC Article
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
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
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B
Genet Med 2022 Aug;24(8):1774-1780. Epub 2022 May 14 doi: 10.1016/j.gim.2022.04.011. PMID: 35567594
Premature mortality in autism spectrum disorder.
Hirvikoski T, Mittendorfer-Rutz E, Boman M, Larsson H, Lichtenstein P, Bölte S
Br J Psychiatry 2016 Mar;208(3):232-8. Epub 2015 Nov 5 doi: 10.1192/bjp.bp.114.160192. PMID: 26541693
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

The Genesis of Schizophrenia: An Origin Story.
Birnbaum R, Weinberger DR
Am J Psychiatry 2024 Jun 1;181(6):482-492. doi: 10.1176/appi.ajp.20240305. PMID: 38822584
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
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

Gender-based differences in prevalence and effects of ADHD in adults: A systematic review.
Faheem M, Akram W, Akram H, Khan MA, Siddiqui FA, Majeed I
Asian J Psychiatr 2022 Sep;75:103205. Epub 2022 Jul 14 doi: 10.1016/j.ajp.2022.103205. PMID: 35878424
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
Parental ADHD in pregnancy and the postpartum period - A systematic review.
Kittel-Schneider S, Quednow BB, Leutritz AL, McNeill RV, Reif A
Neurosci Biobehav Rev 2021 May;124:63-77. Epub 2021 Jan 28 doi: 10.1016/j.neubiorev.2021.01.002. PMID: 33516734
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

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