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Neurodevelopmental disorder

MedGen UID:: 453059
•Concept ID:: C1535926
•: Mental or Behavioral Dysfunction

Synonyms:	Child Mental Disorder; Child Mental Disorders; Disorder, Child Mental; Disorder, Neurodevelopmental; Mental Disorder, Child; Mental Disorders Diagnosed in Childhood; Mental Disorders Usually Diagnosed in Infancy, Childhood or Adolescence; Mental Disorders, Child; Neurodevelopmental Disorder; Neurodevelopmental Disorders; Neurodevelopmental Disorders Usually Diagnosed in Infancy, Childhood or Adolescence
SNOMED CT:	Neurodevelopmental disorder (700364009)

Monarch Initiative:	MONDO:0700092

Definition

Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNeurodevelopmental disorder

Neurodevelopmental disorder
- Developmental disorder
  - Neurodevelopmental disorder
    - Developmental disorder
      - Neurodevelopmental disorder
        Developmental disorder
        Neurodevelopmental disorder
        Attention Deficit and Disruptive Behavior Disorders
        Attention deficit hyperactivity disorder
        Attention deficit hyperactivity disorder, inattentive type
        Hereditary attention deficit-hyperactivity disorder
        conduct disorder
        Sluggish Cognitive Tempo
        Brain Development Abnormality
        Abnormality of neuronal migration
        Classical Lissencephalies and Subcortical Band Heterotopias
        Cobblestone lissencephaly
        Gray matter heterotopia
        Lissencephaly
        Periventricular nodular heterotopia
        Hydranencephaly
        Isolated congenital microcephaly
        Autosomal dominant primary microcephaly
        Autosomal recessive primary microcephaly
        Porencephaly
        Primary microcephaly
        microgyria
        Pontocerebellar hypoplasia type 2
        Pontocerebellar hypoplasia type 2A
        Pontocerebellar hypoplasia type 2B
        Pontocerebellar hypoplasia type 2C
        Pontocerebellar hypoplasia type 2D
        Pontocerebellar hypoplasia type 2E
        Pontocerebellar hypoplasia, type 2F
        Subcortical band heterotopia
        Anterior predominant subcortical band heterotopia
        Diffuse subcortical band heterotopia
        Posterior predominant subcortical band heterotopia
        Child Behavior Disorders
        Child Development Disorders, Pervasive
        Autism spectrum disorder
        Asperger syndrome
        Autism
        Autism, susceptibility to, 1
        Autism, susceptibility to, 3
        Autism, susceptibility to, 5
        Autism, susceptibility to, 6
        Autism, susceptibility to, 7
        Autism, susceptibility to, 8
        Autism, susceptibility to, X-linked 2
        Autism, susceptibility to, X-linked 3
        Autism, susceptiblity to
        Childhood disintegrative disorder
        Childhood-onset schizophrenia
        communication disorder
        Childhood onset fluency disorder
        Impaired social interactions
        Language disorder
        Agraphia
        Anomic aphasia
        Deficit in grammar
        Developmental language disorder
        Dyslexia
        expressive language disorder
        mixed receptive-expressive language disorder
        Phonological disorder
        Speech articulation difficulties
        Speech disorder
        Spoken word recognition deficit
        Stuttering
        Word salad
        Learning disability
        Acalculia
        Learning Disorder, Specific
        Specific language impairment
        Speech-sound disorder
        Congenital meningocele
        Congenital cerebral meningocele
        Congenital spinal meningocele
        Cervical Meningocele
        Lumbar Meningocele
        Sacral meningocele
        Thoracic Meningocele
        Developmental disorder
        Developmental coordination disorder
        Developmental delay
        Motor delay
        Developmental regression
        Cognitive regression
        Motor regression
        Mental Retardation
        ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
        Alpha thalassemia-X-linked intellectual disability syndrome
        Borjeson-Forssman-Lehmann syndrome
        Christianson syndrome
        Intellectual disability, autosomal dominant 1
        Intellectual disability, autosomal dominant 5
        Intellectual disability, autosomal dominant 39
        Intellectual disability, autosomal recessive 34
        Intellectual disability, X-linked 1
        Mental Retardation, Autosomal Dominant 40
        Mental Retardation, X-linked 102
        Mental Retardation, X-linked 21/34
        Renpenning syndrome
        Severe intellectual disability-progressive spastic diplegia syndrome
        Syndromic X-linked intellectual disability Lubs type
        X-linked intellectual disability Cabezas type
        Naevus Lipomatosus Superficialis
        Reactive Attachment Disorder of Infancy or Early Childhood
        Fetal Neurodevelopmental Disorder
        Gabriele de Vries syndrome
        Intellectual disability
        11p partial monosomy syndrome
        5p partial monosomy syndrome
        De Lange syndrome
        Congenital muscular hypertrophy-cerebral syndrome
        Cornelia de Lange syndrome 1
        Cornelia de Lange syndrome 3
        Cornelia de Lange syndrome 4
        Cornelia de Lange syndrome 5
        Down syndrome
        Translocation Down syndrome
        Trisomy 21
        Intellectual disability, borderline
        Intellectual disability, mild
        Intellectual disability, moderate
        Intellectual disability, profound
        Intellectual disability, progressive
        Intellectual disability, severe
        Prader-Willi syndrome
        Prader-Willi syndrome due to imprinting mutation
        Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
        Prader-Willi syndrome due to paternal 15q11q13 deletion
        Prader-Willi syndrome due to translocation
        Rubinstein-Taybi syndrome
        Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
        Rubinstein-Taybi syndrome due to CREBBP mutations
        Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
        Trisomy 13 Syndromes
        Williams syndrome
        X-linked intellectual disability
        Adrenoleukodystrophy
        Coffin-Lowry syndrome
        Danon disease
        Fragile X syndrome
        Lesch-Nyhan syndrome
        Menkes kinky-hair syndrome
        Mucopolysaccharidosis, MPS-II
        Pyruvate dehydrogenase complex deficiency
        Rett syndrome
        Motor skill disorder
        Mutism
        Selective mutism
        Myelocele
        Cervical myelocele
        Lumbar myelocele
        Sacral Myelocele
        Thoracic myelocele
        reactive attachment disorder
        Separation anxiety disorder
        Stereotypic movement disorder
        Tic
        Tourette syndrome

Professional guidelines

PubMed

Tourette syndrome: clinical features, pathophysiology, and treatment.

Johnson KA, Worbe Y, Foote KD, Butson CR, Gunduz A, Okun MS
Lancet Neurol 2023 Feb;22(2):147-158. Epub 2022 Oct 28 doi: 10.1016/S1474-4422(22)00303-9. PMID: 36354027 Free PMC Article

Evidence-based pharmacological treatment options for ADHD in children and adolescents.

Mechler K, Banaschewski T, Hohmann S, Häge A
Pharmacol Ther 2022 Feb;230:107940. Epub 2021 Jun 23 doi: 10.1016/j.pharmthera.2021.107940. PMID: 34174276

Identification, Evaluation, and Management of Children With Autism Spectrum Disorder.

Hyman SL, Levy SE, Myers SM; COUNCIL ON CHILDREN WITH DISABILITIES, SECTION ON DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
Pediatrics 2020 Jan;145(1) Epub 2019 Dec 16 doi: 10.1542/peds.2019-3447. PMID: 31843864

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Recent clinical studies

Etiology

Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Peduto C, Cappuccio G, Zeuli R, Zanobio M, Torella A, Alkuraya FS, Joss S, Daolio C, Spinelli AM, Zampieri S; TUDP Study Group, Nigro V, Brunetti-Pierri N
Am J Med Genet A 2024 Nov;194(11):e63713. Epub 2024 Jun 26 doi: 10.1002/ajmg.a.63713. PMID: 38924631

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K
Brain 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. PMID: 38456468 Free PMC Article

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Diagnosis

Attention-Deficit/Hyperactivity Disorder Diagnosis, Treatment, and Telehealth Use in Adults - National Center for Health Statistics Rapid Surveys System, United States, October-November 2023.

Staley BS, Robinson LR, Claussen AH, Katz SM, Danielson ML, Summers AD, Farr SL, Blumberg SJ, Tinker SC
MMWR Morb Mortal Wkly Rep 2024 Oct 10;73(40):890-895. doi: 10.15585/mmwr.mm7340a1. PMID: 39388378 Free PMC Article

Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.

Fujimoto M, Nakamura Y, Hosoki K, Iwaki T, Sato E, Ieda D, Hori I, Negishi Y, Hattori A, Shiraishi H, Saitoh S
HGG Adv 2024 Oct 10;5(4):100342. Epub 2024 Aug 22 doi: 10.1016/j.xhgg.2024.100342. PMID: 39169619 Free PMC Article

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.

Smits DJ, Dekker J, Douben H, Schot R, Magee H, Bakhtiari S, Koehler K, Huebner A, Schuelke M, Darvish H, Vosoogh S, Tafakhori A, Jameie M, Taghiabadi E, Wilson Y, Shah M, van Slegtenhorst MA, Medici-van den Herik EG, van Ham TJ, Kruer MC, Mancini GMS
HGG Adv 2024 Oct 10;5(4):100327. Epub 2024 Jul 14 doi: 10.1016/j.xhgg.2024.100327. PMID: 39003500 Free PMC Article

Knowledge, attitudes, and practices towards fetal alcohol spectrum disorder in the New Zealand social and community sector: An online survey.

McCormack JC, Chu JTW, Wilson H, Rahman J, Marsh S, Bullen C
J Intellect Disabil 2024 Sep;28(3):723-737. Epub 2023 Apr 24 doi: 10.1177/17446295231172234. PMID: 37092706 Free PMC Article

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Therapy

Evidence-based pharmacological treatment options for ADHD in children and adolescents.

Mechler K, Banaschewski T, Hohmann S, Häge A
Pharmacol Ther 2022 Feb;230:107940. Epub 2021 Jun 23 doi: 10.1016/j.pharmthera.2021.107940. PMID: 34174276

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: 34043900 Free PMC Article

Iron deficiency in pregnancy.

Georgieff MK
Am J Obstet Gynecol 2020 Oct;223(4):516-524. Epub 2020 Mar 14 doi: 10.1016/j.ajog.2020.03.006. PMID: 32184147 Free PMC Article

Nutritional interventions for autism spectrum disorder.

Karhu E, Zukerman R, Eshraghi RS, Mittal J, Deth RC, Castejon AM, Trivedi M, Mittal R, Eshraghi AA
Nutr Rev 2020 Jul 1;78(7):515-531. doi: 10.1093/nutrit/nuz092. PMID: 31876938

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

See all (696)

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

Developmental coordination disorder.

Biotteau M, Albaret JM, Chaix Y
Handb Clin Neurol 2020;174:3-20. doi: 10.1016/B978-0-444-64148-9.00001-6. PMID: 32977886

Cerebral Palsy: An Overview.

Gulati S, Sondhi V
Indian J Pediatr 2018 Nov;85(11):1006-1016. Epub 2017 Nov 20 doi: 10.1007/s12098-017-2475-1. PMID: 29152685

The valproic acid-induced rodent model of autism.

Nicolini C, Fahnestock M
Exp Neurol 2018 Jan;299(Pt A):217-227. Epub 2017 May 2 doi: 10.1016/j.expneurol.2017.04.017. PMID: 28472621

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

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Clinical prediction guides

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.

Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342 Free PMC Article

Developmental coordination disorder.

Biotteau M, Albaret JM, Chaix Y
Handb Clin Neurol 2020;174:3-20. doi: 10.1016/B978-0-444-64148-9.00001-6. PMID: 32977886

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center, Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C
Am J Hum Genet 2020 Sep 3;107(3):544-554. Epub 2020 Jul 29 doi: 10.1016/j.ajhg.2020.06.019. PMID: 32730804 Free 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: 32699506 Free PMC Article

Behavioral neuroscience of autism.

Takumi T, Tamada K, Hatanaka F, Nakai N, Bolton PF
Neurosci Biobehav Rev 2020 Mar;110:60-76. Epub 2019 May 3 doi: 10.1016/j.neubiorev.2019.04.012. PMID: 31059731

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Recent systematic reviews

Global prevalence of Rett syndrome: systematic review and meta-analysis.

Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S
Syst Rev 2023 Jan 16;12(1):5. doi: 10.1186/s13643-023-02169-6. PMID: 36642718 Free PMC Article

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.

Exercise interventions for cerebral palsy.

Ryan JM, Cassidy EE, Noorduyn SG, O'Connell NE
Cochrane Database Syst Rev 2017 Jun 11;6(6):CD011660. doi: 10.1002/14651858.CD011660.pub2. PMID: 28602046 Free PMC Article

Omega-3 polyunsaturated fatty acid supplementation and cognition: A systematic review and meta-analysis.

Cooper RE, Tye C, Kuntsi J, Vassos E, Asherson P
J Psychopharmacol 2015 Jul;29(7):753-63. Epub 2015 Jun 3 doi: 10.1177/0269881115587958. PMID: 26040902

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Neurodevelopmental disorder

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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