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Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder

MedGen UID:
1054632
•Concept ID:
CN377634
•
Disease or Syndrome
Synonym: neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
 
Gene (location): CAPRIN1 (11p13)
 
Monarch Initiative: MONDO:0968945
OMIM®: 620782

Definition

Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder (NEDLAAD) is characterized by speech delay and language difficulties, behavioral abnormalities, and variably impaired intellectual development (in most patients). Additional features seen in some patients include motor delay, mild distal skeletal anomalies, mild ocular anomalies, and mild nonspecific dysmorphic features (Pavinato et al., 2023). [from OMIM]

Professional guidelines

PubMed

Advances in the Diagnosis and Treatment of Autism Spectrum Disorders in Children.
Lin X, Wang G, Shen S, Zhan J
Altern Ther Health Med 2024 Mar;30(3):170-175. PMID: 37883758
Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period.
de Lima TA, Zuanetti PA, Nunes MEN, Hamad APA
World J Pediatr 2023 Aug;19(8):715-726. Epub 2022 Oct 25 doi: 10.1007/s12519-022-00629-y. PMID: 36282408
Autism, Language Disorder, and Social (Pragmatic) Communication Disorder: DSM-V and Differential Diagnoses.
Simms MD, Jin XM
Pediatr Rev 2015 Aug;36(8):355-62; quiz 363. doi: 10.1542/pir.36-8-355. PMID: 26232465

Recent clinical studies

Etiology

Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period.
de Lima TA, Zuanetti PA, Nunes MEN, Hamad APA
World J Pediatr 2023 Aug;19(8):715-726. Epub 2022 Oct 25 doi: 10.1007/s12519-022-00629-y. PMID: 36282408
Psychobehavioural and Cognitive Adverse Events of Anti-Seizure Medications for the Treatment of Developmental and Epileptic Encephalopathies.
Strzelczyk A, Schubert-Bast S
CNS Drugs 2022 Oct;36(10):1079-1111. Epub 2022 Oct 4 doi: 10.1007/s40263-022-00955-9. PMID: 36194365Free PMC Article
A systematic review of randomized controlled trials on efficacy and safety of transcranial direct current stimulation in major neurodevelopmental disorders: ADHD, autism, and dyslexia.
Salehinejad MA, Ghanavati E, Glinski B, Hallajian AH, Azarkolah A
Brain Behav 2022 Sep;12(9):e2724. Epub 2022 Aug 8 doi: 10.1002/brb3.2724. PMID: 35938945Free PMC Article
Association of Antipsychotic Drug Exposure in Pregnancy With Risk of Neurodevelopmental Disorders: A National Birth Cohort Study.
Straub L, Hernández-Díaz S, Bateman BT, Wisner KL, Gray KJ, Pennell PB, Lester B, McDougle CJ, Suarez EA, Zhu Y, Zakoul H, Mogun H, Huybrechts KF
JAMA Intern Med 2022 May 1;182(5):522-533. doi: 10.1001/jamainternmed.2022.0375. PMID: 35343998Free PMC Article
Serious Game-based Intervention for Children with Developmental Disabilities.
Kokol P, Vošner HB, Završnik J, Vermeulen J, Shohieb S, Peinemann F
Curr Pediatr Rev 2020;16(1):26-32. doi: 10.2174/1573396315666190808115238. PMID: 31393252

Diagnosis

DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.
Levy T, Siper PM, Lerman B, Halpern D, Zweifach J, Belani P, Thurm A, Kleefstra T, Berry-Kravis E, Buxbaum JD, Grice DE
Pediatr Neurol 2023 Jan;138:87-94. Epub 2022 Oct 27 doi: 10.1016/j.pediatrneurol.2022.10.009. PMID: 36434914
Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period.
de Lima TA, Zuanetti PA, Nunes MEN, Hamad APA
World J Pediatr 2023 Aug;19(8):715-726. Epub 2022 Oct 25 doi: 10.1007/s12519-022-00629-y. PMID: 36282408
Serious Game-based Intervention for Children with Developmental Disabilities.
Kokol P, Vošner HB, Završnik J, Vermeulen J, Shohieb S, Peinemann F
Curr Pediatr Rev 2020;16(1):26-32. doi: 10.2174/1573396315666190808115238. PMID: 31393252
Prevalence and Trends of Developmental Disabilities among Children in the United States: 2009-2017.
Zablotsky B, Black LI, Maenner MJ, Schieve LA, Danielson ML, Bitsko RH, Blumberg SJ, Kogan MD, Boyle CA
Pediatrics 2019 Oct;144(4) doi: 10.1542/peds.2019-0811. PMID: 31558576Free PMC Article
Child psychopathology.
Ross AO, Pelham WE
Annu Rev Psychol 1981;32:243-78. doi: 10.1146/annurev.ps.32.020181.001331. PMID: 7015999

Therapy

A systematic review of cannabidiol trials in neurodevelopmental disorders.
Parrella NF, Hill AT, Enticott PG, Barhoun P, Bower IS, Ford TC
Pharmacol Biochem Behav 2023 Sep;230:173607. Epub 2023 Aug 4 doi: 10.1016/j.pbb.2023.173607. PMID: 37543051
A systematic review of randomized controlled trials on efficacy and safety of transcranial direct current stimulation in major neurodevelopmental disorders: ADHD, autism, and dyslexia.
Salehinejad MA, Ghanavati E, Glinski B, Hallajian AH, Azarkolah A
Brain Behav 2022 Sep;12(9):e2724. Epub 2022 Aug 8 doi: 10.1002/brb3.2724. PMID: 35938945Free PMC Article
Association of Antipsychotic Drug Exposure in Pregnancy With Risk of Neurodevelopmental Disorders: A National Birth Cohort Study.
Straub L, Hernández-Díaz S, Bateman BT, Wisner KL, Gray KJ, Pennell PB, Lester B, McDougle CJ, Suarez EA, Zhu Y, Zakoul H, Mogun H, Huybrechts KF
JAMA Intern Med 2022 May 1;182(5):522-533. doi: 10.1001/jamainternmed.2022.0375. PMID: 35343998Free PMC Article
Serious Game-based Intervention for Children with Developmental Disabilities.
Kokol P, Vošner HB, Završnik J, Vermeulen J, Shohieb S, Peinemann F
Curr Pediatr Rev 2020;16(1):26-32. doi: 10.2174/1573396315666190808115238. PMID: 31393252
Child psychopathology.
Ross AO, Pelham WE
Annu Rev Psychol 1981;32:243-78. doi: 10.1146/annurev.ps.32.020181.001331. PMID: 7015999

Prognosis

Advances in the Diagnosis and Treatment of Autism Spectrum Disorders in Children.
Lin X, Wang G, Shen S, Zhan J
Altern Ther Health Med 2024 Mar;30(3):170-175. PMID: 37883758
Consortium neuroscience of attention deficit/hyperactivity disorder and autism spectrum disorder: The ENIGMA adventure.
Hoogman M, van Rooij D, Klein M, Boedhoe P, Ilioska I, Li T, Patel Y, Postema MC, Zhang-James Y, Anagnostou E, Arango C, Auzias G, Banaschewski T, Bau CHD, Behrmann M, Bellgrove MA, Brandeis D, Brem S, Busatto GF, Calderoni S, Calvo R, Castellanos FX, Coghill D, Conzelmann A, Daly E, Deruelle C, Dinstein I, Durston S, Ecker C, Ehrlich S, Epstein JN, Fair DA, Fitzgerald J, Freitag CM, Frodl T, Gallagher L, Grevet EH, Haavik J, Hoekstra PJ, Janssen J, Karkashadze G, King JA, Konrad K, Kuntsi J, Lazaro L, Lerch JP, Lesch KP, Louza MR, Luna B, Mattos P, McGrath J, Muratori F, Murphy C, Nigg JT, Oberwelland-Weiss E, O'Gorman Tuura RL, O'Hearn K, Oosterlaan J, Parellada M, Pauli P, Plessen KJ, Ramos-Quiroga JA, Reif A, Reneman L, Retico A, Rosa PGP, Rubia K, Shaw P, Silk TJ, Tamm L, Vilarroya O, Walitza S, Jahanshad N, Faraone SV, Francks C, van den Heuvel OA, Paus T, Thompson PM, Buitelaar JK, Franke B
Hum Brain Mapp 2022 Jan;43(1):37-55. Epub 2020 May 18 doi: 10.1002/hbm.25029. PMID: 32420680Free PMC Article
Long-term medication for ADHD and development of cognitive functions in children and adolescents.
Johnson M, Åsberg Johnels J, Östlund S, Cedergren K, Omanovic Z, Hjalmarsson K, Jakobsson K, Högstedt J, Billstedt E
J Psychiatr Res 2021 Oct;142:204-209. Epub 2021 Aug 2 doi: 10.1016/j.jpsychires.2021.07.055. PMID: 34375772
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM
Hum Genet 2018 May;137(5):375-388. Epub 2018 May 8 doi: 10.1007/s00439-018-1887-y. PMID: 29740699Free PMC Article
Child psychopathology.
Ross AO, Pelham WE
Annu Rev Psychol 1981;32:243-78. doi: 10.1146/annurev.ps.32.020181.001331. PMID: 7015999

Clinical prediction guides

Intrauterine Growth and Offspring Neurodevelopmental Traits: A Mendelian Randomization Analysis of the Norwegian Mother, Father and Child Cohort Study (MoBa).
D'Urso S, Moen GH, Hwang LD, Hannigan LJ, Corfield EC, Ask H, Johannson S, Njølstad PR, Beaumont RN, Freathy RM, Evans DM, Havdahl A
JAMA Psychiatry 2024 Feb 1;81(2):144-156. doi: 10.1001/jamapsychiatry.2023.3872. PMID: 37878341Free PMC Article
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A
Brain 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278. PMID: 35979925Free PMC Article
Association of Antipsychotic Drug Exposure in Pregnancy With Risk of Neurodevelopmental Disorders: A National Birth Cohort Study.
Straub L, Hernández-Díaz S, Bateman BT, Wisner KL, Gray KJ, Pennell PB, Lester B, McDougle CJ, Suarez EA, Zhu Y, Zakoul H, Mogun H, Huybrechts KF
JAMA Intern Med 2022 May 1;182(5):522-533. doi: 10.1001/jamainternmed.2022.0375. PMID: 35343998Free PMC Article
Long-term medication for ADHD and development of cognitive functions in children and adolescents.
Johnson M, Åsberg Johnels J, Östlund S, Cedergren K, Omanovic Z, Hjalmarsson K, Jakobsson K, Högstedt J, Billstedt E
J Psychiatr Res 2021 Oct;142:204-209. Epub 2021 Aug 2 doi: 10.1016/j.jpsychires.2021.07.055. PMID: 34375772
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM
Hum Genet 2018 May;137(5):375-388. Epub 2018 May 8 doi: 10.1007/s00439-018-1887-y. PMID: 29740699Free PMC Article

Recent systematic reviews

A systematic review of cannabidiol trials in neurodevelopmental disorders.
Parrella NF, Hill AT, Enticott PG, Barhoun P, Bower IS, Ford TC
Pharmacol Biochem Behav 2023 Sep;230:173607. Epub 2023 Aug 4 doi: 10.1016/j.pbb.2023.173607. PMID: 37543051
A systematic review of randomized controlled trials on efficacy and safety of transcranial direct current stimulation in major neurodevelopmental disorders: ADHD, autism, and dyslexia.
Salehinejad MA, Ghanavati E, Glinski B, Hallajian AH, Azarkolah A
Brain Behav 2022 Sep;12(9):e2724. Epub 2022 Aug 8 doi: 10.1002/brb3.2724. PMID: 35938945Free PMC Article
Efficacy of gluten- and casein-free diets on autism spectrum disorders in children.
Alamri ES
Saudi Med J 2020 Oct;41(10):1041-1046. doi: 10.15537/smj.2020.10.25308. PMID: 33026043Free PMC Article
Comparative meta-analyses of brain structural and functional abnormalities during cognitive control in attention-deficit/hyperactivity disorder and autism spectrum disorder.
Lukito S, Norman L, Carlisi C, Radua J, Hart H, Simonoff E, Rubia K
Psychol Med 2020 Apr;50(6):894-919. Epub 2020 Mar 27 doi: 10.1017/S0033291720000574. PMID: 32216846Free PMC Article
Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.
Veroniki AA, Rios P, Cogo E, Straus SE, Finkelstein Y, Kealey R, Reynen E, Soobiah C, Thavorn K, Hutton B, Hemmelgarn BR, Yazdi F, D'Souza J, MacDonald H, Tricco AC
BMJ Open 2017 Jul 20;7(7):e017248. doi: 10.1136/bmjopen-2017-017248. PMID: 28729328Free PMC Article

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