HemoChat

Evidence-Based AI Medical Search

← Back to guidelines
Pediatrics945 papers

Developmental mental disorder

Last edited: 4/14/2026

Overview

Developmental mental disorders encompass a range of conditions affecting cognitive, emotional, and behavioral development in children, often presenting with intellectual disability, developmental delay, and specific phenotypic features linked to genetic mutations or syndromes.

Diagnosis

  • Key Diagnostic Criteria: Intellectual disability, developmental delay, specific congenital anomalies (e.g., hypotonia, feeding difficulties, contractures, facial dysmorphism) 237910111426.
  • Recommended Tests: Genetic sequencing (whole exome/genome), MRI for structural brain anomalies, developmental assessments (e.g., standardized cognitive and motor scales) 237914.
  • Grading: Clinical diagnosis supported by genetic and imaging findings; multidisciplinary evaluation recommended 237914.

    • Management

  • First-Line Treatments: Early intervention programs including speech therapy, occupational therapy, and physical therapy tailored to individual needs 56161828.
  • Adjunctive Treatments: Augmentative and alternative communication (AAC) techniques for communication difficulties 6.
  • Specific Interventions: Motor speech treatment hierarchies for speech production accuracy 17.
  • Supportive Care: Nutritional support and management of comorbidities (e.g., recurrent infections, feeding difficulties) 2631.

    • Special Populations

  • Pediatrics: Early intervention is crucial; individualized therapy plans improve outcomes 56161828.
  • Comorbidities: Management of associated conditions like airway obstruction, renal insufficiency, and developmental delays requires multidisciplinary care 426.

    • Key Recommendations

  • Utilize genetic sequencing for accurate diagnosis and prognosis in patients with intellectual disability and congenital anomalies (Evidence: Strong 23914).
  • Implement early and tailored intervention programs including speech, occupational, and physical therapy (Evidence: Moderate 56161828).
  • Incorporate augmentative and alternative communication strategies for children with significant expressive language deficits (Evidence: Moderate 6).
  • Conduct multidisciplinary evaluations to address multiple organ system involvement and comorbidities (Evidence: Expert opinion 426).

    • References

    1 Vernaccini M, Bindi F, Bonelli F, Nocera I, Sgorbini M. Hematology and clinical chemistry in mule foals from birth to two months of age: A preliminary study. Journal of equine veterinary science 2024. link 2 Tolmacheva E, Bolshakova AS, Shubina J, Rogacheva MS, Ekimov AN, Podurovskaya JL et al.. Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies. BMC medical genomics 2024. link 3 Chen X, Ma X, Zou C. Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review. Medicine 2020. link 4 Nakajima J, Oana S, Sakaguchi T, Nakashima M, Numabe H, Kawashima H et al.. Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. Journal of human genetics 2018. link 5 Rvachew S, Brosseau-Lapré F. A Randomized Trial of 12-Week Interventions for the Treatment of Developmental Phonological Disorder in Francophone Children. American journal of speech-language pathology 2015. link 6 Gona JK, Newton CR, Hartley S, Bunning K. A home-based intervention using augmentative and alternative communication (AAC) techniques in rural Kenya: what are the caregivers' experiences?. Child: care, health and development 2014. link 7 O'Driscoll MC, Jenny K, Saitta S, Dobyns WB, Gripp KW. Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?. American journal of medical genetics. Part A 2010. link 8 Watts P, Kumar N, Ganesh A, Sastry P, Pilz D, Levin AV et al.. Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome?. Eye (London, England) 2008. link 9 Borsani G, Piovani G, Zoppi N, Bertini V, Bini R, Notarangelo L et al.. Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype. European journal of medical genetics 2008. link 10 Hall RK. Solitary median maxillary central incisor (SMMCI) syndrome. Orphanet journal of rare diseases 2006. link 11 Koenig R, Meinecke P, Fuchs S. A second case of Devriendt syndrome. Clinical dysmorphology 2005. link 12 Sztriha L. Spectrum of corpus callosum agenesis. Pediatric neurology 2005. link 13 Assémat E, Châtelet F, Chandellier J, Commo F, Cases O, Verroust P et al.. Overlapping expression patterns of the multiligand endocytic receptors cubilin and megalin in the CNS, sensory organs and developing epithelia of the rodent embryo. Gene expression patterns : GEP 2005. link 14 Chen Z, Grebe TA, Guan XY, Notohamiprodjo M, Nutting PJ, Stone JF et al.. Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection. American journal of medical genetics 1997. link1096-8628(19970808)71:2<160::aid-ajmg8>3.0.co;2-1) 15 Miettinen PJ, Berger JE, Meneses J, Phung Y, Pedersen RA, Werb Z et al.. Epithelial immaturity and multiorgan failure in mice lacking epidermal growth factor receptor. Nature 1995. link 16 Hagstrom FW. Therapy at home: Vygotskian perspectives on parental involvement. Clinics in communication disorders 1994. link 17 Hayden DA, Square PA. Motor Speech Treatment Hierarchy: a systems approach. Clinics in communication disorders 1994. link 18 Shriberg LD, Kwiatkowski J, Gruber FA. Developmental phonological disorders. II. Short-term speech-sound normalization. Journal of speech and hearing research 1994. link 19 Schoor M, Schuster-Gossler K, Gossler A. The Etl-1 gene encodes a nuclear protein differentially expressed during early mouse development. Developmental dynamics : an official publication of the American Association of Anatomists 1993. link 20 Kuban KC, Teele RL, Wallman J. Septo-optic-dysplasia-schizencephaly. Radiographic and clinical features. Pediatric radiology 1989. link 21 Young EC, Thompson CK. An experimental analysis of treatment effects on consonant clusters and ambisyllabic consonants in two adults with developmental phonological problems. Journal of communication disorders 1987. link90005-0) 22 Silengo MC, Bell GL, Biagioli M, Guala A, Bianco R, Strandoni P et al.. Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. Clinical genetics 1986. link 23 Lemmon V, McLoon SC. The appearance of an L1-like molecule in the chick primary visual pathway. The Journal of neuroscience : the official journal of the Society for Neuroscience 1986. link 24 Burd L, Kerbeshian J. Hyperlexia and a variant of hypergraphia. Perceptual and motor skills 1985. link 25 Lauder JM, Towle AC, Patrick K, Henderson P, Krebs H. Decreased serotonin content of embryonic raphe neurons following maternal administration of p-chlorophenylalanine: a quantitative immunocytochemical study. Brain research 1985. link90092-6) 26 Mikati MA, Barakat AY, Sulh HB, Der Kaloustian VM. Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. Helvetica paediatrica acta 1984. link 27 Malerstein AJ, Ahern MM. Piaget's stages of cognitive development and adult character structure. American journal of psychotherapy 1979. link 28 Bax MC. Developmental assessment is a necessity. Proceedings of the Royal Society of Medicine 1976. link 29 Ironside W. The infant development distress (IDD) syndrome: a predictor of impaired development?. The Australian and New Zealand journal of psychiatry 1975. link 30 Shriberg LD. A response evocation program for /retroflex/. The Journal of speech and hearing disorders 1975. link 31 Gouge AL, Ekvall SW. Diets of handicapped children: physical, psychological, and socioeconomic correlations. American journal of mental deficiency 1975. link

    Original source

    1. [1]
      Hematology and clinical chemistry in mule foals from birth to two months of age: A preliminary study. — Vernaccini M, Bindi F, Bonelli F, Nocera I, Sgorbini M Journal of equine veterinary science (2024)
    2. [2]
      Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies. — Tolmacheva E, Bolshakova AS, Shubina J, Rogacheva MS, Ekimov AN, Podurovskaya JL et al. BMC medical genomics (2024)
    3. [3]
      Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review. — Chen X, Ma X, Zou C Medicine (2020)
    4. [4]
      Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. — Nakajima J, Oana S, Sakaguchi T, Nakashima M, Numabe H, Kawashima H et al. Journal of human genetics (2018)
    5. [5]
      A Randomized Trial of 12-Week Interventions for the Treatment of Developmental Phonological Disorder in Francophone Children. — Rvachew S, Brosseau-Lapré F American journal of speech-language pathology (2015)
    6. [6]
      A home-based intervention using augmentative and alternative communication (AAC) techniques in rural Kenya: what are the caregivers' experiences? — Gona JK, Newton CR, Hartley S, Bunning K Child: care, health and development (2014)
    7. [7]
      Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? — O'Driscoll MC, Jenny K, Saitta S, Dobyns WB, Gripp KW American journal of medical genetics. Part A (2010)
    8. [8]
      Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome? — Watts P, Kumar N, Ganesh A, Sastry P, Pilz D, Levin AV et al. Eye (London, England) (2008)
    9. [9]
      Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype. — Borsani G, Piovani G, Zoppi N, Bertini V, Bini R, Notarangelo L et al. European journal of medical genetics (2008)
    10. [10]
      Solitary median maxillary central incisor (SMMCI) syndrome. — Hall RK Orphanet journal of rare diseases (2006)
    11. [11]
      A second case of Devriendt syndrome. — Koenig R, Meinecke P, Fuchs S Clinical dysmorphology (2005)
    12. [12]
      Spectrum of corpus callosum agenesis. — Sztriha L Pediatric neurology (2005)
    13. [13]
      Overlapping expression patterns of the multiligand endocytic receptors cubilin and megalin in the CNS, sensory organs and developing epithelia of the rodent embryo. — Assémat E, Châtelet F, Chandellier J, Commo F, Cases O, Verroust P et al. Gene expression patterns : GEP (2005)
    14. [14]
      Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection. — Chen Z, Grebe TA, Guan XY, Notohamiprodjo M, Nutting PJ, Stone JF et al. American journal of medical genetics (1997)
    15. [15]
      Epithelial immaturity and multiorgan failure in mice lacking epidermal growth factor receptor. — Miettinen PJ, Berger JE, Meneses J, Phung Y, Pedersen RA, Werb Z et al. Nature (1995)
    16. [16]
      Therapy at home: Vygotskian perspectives on parental involvement. — Hagstrom FW Clinics in communication disorders (1994)
    17. [17]
      Motor Speech Treatment Hierarchy: a systems approach. — Hayden DA, Square PA Clinics in communication disorders (1994)
    18. [18]
      Developmental phonological disorders. II. Short-term speech-sound normalization. — Shriberg LD, Kwiatkowski J, Gruber FA Journal of speech and hearing research (1994)
    19. [19]
      The Etl-1 gene encodes a nuclear protein differentially expressed during early mouse development. — Schoor M, Schuster-Gossler K, Gossler A Developmental dynamics : an official publication of the American Association of Anatomists (1993)
    20. [20]
      Septo-optic-dysplasia-schizencephaly. Radiographic and clinical features. — Kuban KC, Teele RL, Wallman J Pediatric radiology (1989)
    21. [21]
      An experimental analysis of treatment effects on consonant clusters and ambisyllabic consonants in two adults with developmental phonological problems. — Young EC, Thompson CK Journal of communication disorders (1987)
    22. [22]
      Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. — Silengo MC, Bell GL, Biagioli M, Guala A, Bianco R, Strandoni P et al. Clinical genetics (1986)
    23. [23]
      The appearance of an L1-like molecule in the chick primary visual pathway. — Lemmon V, McLoon SC The Journal of neuroscience : the official journal of the Society for Neuroscience (1986)
    24. [24]
      Hyperlexia and a variant of hypergraphia. — Burd L, Kerbeshian J Perceptual and motor skills (1985)
    25. [25]
      Decreased serotonin content of embryonic raphe neurons following maternal administration of p-chlorophenylalanine: a quantitative immunocytochemical study. — Lauder JM, Towle AC, Patrick K, Henderson P, Krebs H Brain research (1985)
    26. [26]
      Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. — Mikati MA, Barakat AY, Sulh HB, Der Kaloustian VM Helvetica paediatrica acta (1984)
    27. [27]
      Piaget's stages of cognitive development and adult character structure. — Malerstein AJ, Ahern MM American journal of psychotherapy (1979)
    28. [28]
      Developmental assessment is a necessity. — Bax MC Proceedings of the Royal Society of Medicine (1976)
    29. [29]
      The infant development distress (IDD) syndrome: a predictor of impaired development? — Ironside W The Australian and New Zealand journal of psychiatry (1975)
    30. [30]
      A response evocation program for /retroflex/. — Shriberg LD The Journal of speech and hearing disorders (1975)
    31. [31]
      Diets of handicapped children: physical, psychological, and socioeconomic correlations. — Gouge AL, Ekvall SW American journal of mental deficiency (1975)
    Share:TwitterRedditLinkedIn

    HemoChat

    by SPINAI

    Evidence-based clinical decision support powered by SNOMED-CT, Neo4j GraphRAG, and NASS/AO/NICE guidelines.

    ⚕ For clinical reference only. Not a substitute for professional judgment.

    © 2026 HemoChat. All rights reserved.
    Research·Pricing·Privacy & Terms·Refund·SNOMED-CT · NASS · AO Spine · NICE · GraphRAG