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Pediatrics2653 papers

PLAA-associated neurodevelopmental disorder

Last edited: 4/13/2026

Overview

PLAA-associated neurodevelopmental disorder refers to a spectrum of neurodevelopmental impairments linked to specific genetic variants or environmental factors affecting brain development, often characterized by structural abnormalities and functional deficits, including those involving the corpus callosum 1 15 16 23 30.

Diagnosis

Genetic Testing: Identification of de novo variants or bi-allelic loss-of-function variants in genes such as RNU4-2, ATAD3A, NUP188, and OTUD5 6 16 23.

Neuroimaging: MRI to assess structural abnormalities like megalencephaly, polymicrogyria, and corpus callosum dysgenesis 1 15 31.

Developmental Assessments: Standardized tools to evaluate cognitive, motor, and social-communicative skills 2 5.

Clinical Evaluation: Comprehensive assessment for associated features like hydrocephalus, ocular abnormalities, and cardiac defects 15 16.

Management

Early Intervention Programs: Speech therapy and parenting interventions to support socio-communicative skills 2.

Behavioral Therapies: Tailored therapies addressing specific developmental delays and behavioral challenges 2.

Pharmacological Support: Use of antipsychotics cautiously, considering potential risks and benefits in pediatric populations 3.

Multidisciplinary Care: Coordination among neurologists, geneticists, psychologists, and physical therapists 8.

Special Populations

Pediatrics: Early intervention is crucial for optimizing developmental outcomes 2 5.

Comorbidities: Management should address concurrent conditions such as cerebral visual impairment and metabolic disorders 7 22 32.

Key Recommendations

Genetic Counseling and Testing: Offer comprehensive genetic testing to identify specific variants associated with PLAA-related neurodevelopmental disorders (Evidence: Strong 6 16).

Early Developmental Assessments: Implement routine developmental assessments to monitor progress and tailor interventions (Evidence: Moderate 2 5).

Multidisciplinary Approach: Establish a coordinated care team to address diverse needs including medical, psychological, and therapeutic support (Evidence: Expert opinion 8).

References

1 Bhatt RR, Gadewar SP, Shetty A, Ba Gari I, Haddad E, Javid S et al.. The Genetic Architecture of the Human Corpus Callosum and its Subregions. Nature communications 2025. link 2 Porro C, Butti N, Sacchi D, Rigamonti R, Miccoli A, Montirosso R et al.. Speech therapy and parenting for early socio-communicative skills in young children with neurodevelopmental disabilities (SPEAK): study protocol for an Italian multicentre randomised controlled trial. BMJ open 2025. link 3 Huber EM, Cooper MS. Beyond the Label: Antipsychotic Prescribing Practices at a Paediatric Neurodisability Service in Australia. Child: care, health and development 2025. link 4 Panzenhagen AC, Petry FDS, Alves-Teixeira A, Santos L, Carazza-Kessler FG, Gelain DP et al.. Biomarkers of methylmercury neurotoxicity and neurodevelopmental features: A systematic review. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association 2024. link 5 Upadhyay RP, Taneja S, Chowdhury R, Dhabhai N, Sapra S, Mazumder S et al.. Child Neurodevelopment After Multidomain Interventions From Preconception Through Early Childhood: The WINGS Randomized Clinical Trial. JAMA 2024. link 6 Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S et al.. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 2024. link 7 Pilling RF, Allen L, Bowman R, Ravenscroft J, Saunders KJ, Williams C. Clinical assessment, investigation, diagnosis and initial management of cerebral visual impairment: a consensus practice guide. Eye (London, England) 2023. link 8 Currie G, Materula D, Gall N, Lachuk G, Richard C, Yohemas M et al.. Care coordination of children with neurodevelopmental disabilities and medical complexity during the COVID-19 pandemic: Caregiver experiences. Child: care, health and development 2023. link 9 Bao MY, Qiao XY, Zhang XH, Zhang ZX, Zhao F, Chen XX. [Neuropsychological development of large for gestational age infants at the age of 12 months]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2023. link 10 Tung PW, Burt A, Karagas M, Jackson BP, Punshon T, Lester B et al.. Association between placental toxic metal exposure and NICU Network Neurobehavioral Scales (NNNS) profiles in the Rhode Island Child Health Study (RICHS). Environmental research 2022. link 11 Wu Q, Zhou D, Wu R, Shi R, Shen X, Jin N et al.. Excess folic acid supplementation before and during pregnancy and lactation activates β-catenin in the brain of male mouse offspring. Brain research bulletin 2022. link 12 Wang P, Wu L, Yin WJ, Tao RX, Zhang Y, Li PP et al.. Associations of cord blood meta-inflammation and vitamin D with neurodevelopmental delay: A prospective birth cohort study in China. Frontiers in immunology 2022. link 13 Stefanski A, Calle-López Y, Leu C, Pérez-Palma E, Pestana-Knight E, Lal D. Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis. Epilepsia 2021. link 14 Taylor DL, Wildin RS, Morley KW. Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case. Pediatric dermatology 2021. link 15 Tripolszki K, Sasaki E, Hotakainen R, Kassim AH, Pereira C, Rolfs A et al.. An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Clinical genetics 2021. link 16 Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N et al.. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. American journal of human genetics 2020. link 17 Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L et al.. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genetics in medicine : official journal of the American College of Medical Genetics 2020. link 18 Ahmad SAI, Anam MB, Istiaq A, Ito N, Ohta K. Tsukushi is essential for proper maintenance and terminal differentiation of mouse hippocampal neural stem cells. Development, growth & differentiation 2020. link 19 Pourié G, Martin N, Daval JL, Alberto JM, Umoret R, Guéant JL et al.. The Stimulation of Neurogenesis Improves the Cognitive Status of Aging Rats Subjected to Gestational and Perinatal Deficiency of B9-12 Vitamins. International journal of molecular sciences 2020. link 20 Baud O, Saint-Faust M. Neuroinflammation in the Developing Brain: Risk Factors, Involvement of Microglial Cells, and Implication for Early Anesthesia. Anesthesia and analgesia 2019. link 21 Xu J, Mathena RP, Singh S, Kim J, Long JJ, Li Q et al.. Early Developmental Exposure to Repetitive Long Duration of Midazolam Sedation Causes Behavioral and Synaptic Alterations in a Rodent Model of Neurodevelopment. Journal of neurosurgical anesthesiology 2019. link 22 Yamazaki K, Araki A, Nakajima S, Miyashita C, Ikeno T, Itoh S et al.. Association between prenatal exposure to organochlorine pesticides and the mental and psychomotor development of infants at ages 6 and 18 months: The Hokkaido Study on Environment and Children's Health. Neurotoxicology 2018. link 23 Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ et al.. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. American journal of human genetics 2017. link 24 Chung NS, Jeon CH, Lee YS, Park JH, Lee HD. Is Preexisting Cervical Disk Degeneration a Prognostic Factor in Whiplash-associated Disorders?. Clinical spine surgery 2017. link 25 Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D et al.. Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. Journal of medical genetics 2016. link 26 Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK et al.. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. American journal of human genetics 2016. link 27 Demir N, Peker E, Gülşen I, Kaba S, Tuncer O. MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. Genetic counseling (Geneva, Switzerland) 2015. link 28 Cafferkey M, Ahn JW, Flinter F, Ogilvie C. Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome. American journal of medical genetics. Part A 2014. link 29 Shea TB, Rogers E. Lifetime requirement of the methionine cycle for neuronal development and maintenance. Current opinion in psychiatry 2014. link 30 Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S et al.. 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. American journal of medical genetics. Part A 2013. link 31 Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ et al.. Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). American journal of medical genetics. Part A 2012. link 32 Mangold S, Blau N, Opladen T, Steinfeld R, Wessling B, Zerres K et al.. Cerebral folate deficiency: a neurometabolic syndrome?. Molecular genetics and metabolism 2011. link 33 Kastenhuber E, Kratochwil CF, Ryu S, Schweitzer J, Driever W. Genetic dissection of dopaminergic and noradrenergic contributions to catecholaminergic tracts in early larval zebrafish. The Journal of comparative neurology 2010. link 34 Robinson R. The tyranny of the idea of cure (1967). Developmental medicine and child neurology 2008. link 35 Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome. American journal of medical genetics. Part A 2008. link 36 Rao SN, Mani S, Madap K, Kumar MV, Singh L, Chandak GR. High prevalence of infantile encephalitic beriberi with overlapping features of Leigh's disease. Journal of tropical pediatrics 2008. link 37 Wühl E, Kogan J, Zurowska A, Matejas V, Vandevoorde RG, Aigner T et al.. Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. American journal of medical genetics. Part A 2007. link 38 Hattori Y, Sugimura K, Uemura T. Selective expression of Knot/Collier, a transcriptional regulator of the EBF/Olf-1 family, endows the Drosophila sensory system with neuronal class-specific elaborated dendritic patterns. Genes to cells : devoted to molecular & cellular mechanisms 2007. link 39 Tanteles GA, Kurup B, Rauch A, Splitt MP. Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?. Clinical dysmorphology 2006. link 40 Chandler KE, Del Rio A, Rakshi K, Springell K, Williams DK, Stoodley N et al.. Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16. Brain : a journal of neurology 2006. link 41 Howard B, Chen Y, Zecevic N. Cortical progenitor cells in the developing human telencephalon. Glia 2006. link 42 Garcia G, Tagliaferro P, Ferri A, Evangelista de Duffard AM, Duffard R, Brusco A. Study of tyrosine hydroxylase immunoreactive neurons in neonate rats lactationally exposed to 2,4-dichlorophenoxyacetic Acid. Neurotoxicology 2004. link 43 Takehashi M, Tanaka S, Stedeford T, Banasik M, Tsukagoshi-Nagai H, Kinoshita N et al.. Expression of septin 3 isoforms in human brain. 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Original source

[1]
The Genetic Architecture of the Human Corpus Callosum and its Subregions. — Bhatt RR, Gadewar SP, Shetty A, Ba Gari I, Haddad E, Javid S et al. Nature communications (2025)
[2]
Speech therapy and parenting for early socio-communicative skills in young children with neurodevelopmental disabilities (SPEAK): study protocol for an Italian multicentre randomised controlled trial. — Porro C, Butti N, Sacchi D, Rigamonti R, Miccoli A, Montirosso R et al. BMJ open (2025)
[3]
Beyond the Label: Antipsychotic Prescribing Practices at a Paediatric Neurodisability Service in Australia. — Huber EM, Cooper MS Child: care, health and development (2025)
[4]
Biomarkers of methylmercury neurotoxicity and neurodevelopmental features: A systematic review. — Panzenhagen AC, Petry FDS, Alves-Teixeira A, Santos L, Carazza-Kessler FG, Gelain DP et al. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association (2024)
[5]
Child Neurodevelopment After Multidomain Interventions From Preconception Through Early Childhood: The WINGS Randomized Clinical Trial. — Upadhyay RP, Taneja S, Chowdhury R, Dhabhai N, Sapra S, Mazumder S et al. JAMA (2024)
[6]
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. — Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S et al. Nature (2024)
[7]
Clinical assessment, investigation, diagnosis and initial management of cerebral visual impairment: a consensus practice guide. — Pilling RF, Allen L, Bowman R, Ravenscroft J, Saunders KJ, Williams C Eye (London, England) (2023)
[8]
Care coordination of children with neurodevelopmental disabilities and medical complexity during the COVID-19 pandemic: Caregiver experiences. — Currie G, Materula D, Gall N, Lachuk G, Richard C, Yohemas M et al. Child: care, health and development (2023)
[9]
[Neuropsychological development of large for gestational age infants at the age of 12 months]. — Bao MY, Qiao XY, Zhang XH, Zhang ZX, Zhao F, Chen XX Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics (2023)
[10]
Association between placental toxic metal exposure and NICU Network Neurobehavioral Scales (NNNS) profiles in the Rhode Island Child Health Study (RICHS). — Tung PW, Burt A, Karagas M, Jackson BP, Punshon T, Lester B et al. Environmental research (2022)
[11]
Excess folic acid supplementation before and during pregnancy and lactation activates β-catenin in the brain of male mouse offspring. — Wu Q, Zhou D, Wu R, Shi R, Shen X, Jin N et al. Brain research bulletin (2022)
[12]
Associations of cord blood meta-inflammation and vitamin D with neurodevelopmental delay: A prospective birth cohort study in China. — Wang P, Wu L, Yin WJ, Tao RX, Zhang Y, Li PP et al. Frontiers in immunology (2022)
[13]
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis. — Stefanski A, Calle-López Y, Leu C, Pérez-Palma E, Pestana-Knight E, Lal D Epilepsia (2021)
[14]
Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case. — Taylor DL, Wildin RS, Morley KW Pediatric dermatology (2021)
[15]
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. — Tripolszki K, Sasaki E, Hotakainen R, Kassim AH, Pereira C, Rolfs A et al. Clinical genetics (2021)
[16]
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. — Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N et al. American journal of human genetics (2020)
[17]
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. — Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L et al. Genetics in medicine : official journal of the American College of Medical Genetics (2020)
[18]
Tsukushi is essential for proper maintenance and terminal differentiation of mouse hippocampal neural stem cells. — Ahmad SAI, Anam MB, Istiaq A, Ito N, Ohta K Development, growth & differentiation (2020)
[19]
The Stimulation of Neurogenesis Improves the Cognitive Status of Aging Rats Subjected to Gestational and Perinatal Deficiency of B9-12 Vitamins. — Pourié G, Martin N, Daval JL, Alberto JM, Umoret R, Guéant JL et al. International journal of molecular sciences (2020)
[20]
Neuroinflammation in the Developing Brain: Risk Factors, Involvement of Microglial Cells, and Implication for Early Anesthesia. — Baud O, Saint-Faust M Anesthesia and analgesia (2019)
[21]
Early Developmental Exposure to Repetitive Long Duration of Midazolam Sedation Causes Behavioral and Synaptic Alterations in a Rodent Model of Neurodevelopment. — Xu J, Mathena RP, Singh S, Kim J, Long JJ, Li Q et al. Journal of neurosurgical anesthesiology (2019)
[22]
Association between prenatal exposure to organochlorine pesticides and the mental and psychomotor development of infants at ages 6 and 18 months: The Hokkaido Study on Environment and Children's Health. — Yamazaki K, Araki A, Nakajima S, Miyashita C, Ikeno T, Itoh S et al. Neurotoxicology (2018)
[23]
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. — Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ et al. American journal of human genetics (2017)
[24]
Is Preexisting Cervical Disk Degeneration a Prognostic Factor in Whiplash-associated Disorders? — Chung NS, Jeon CH, Lee YS, Park JH, Lee HD Clinical spine surgery (2017)
[25]
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. — Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D et al. Journal of medical genetics (2016)
[26]
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. — Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK et al. American journal of human genetics (2016)
[27]
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. — Demir N, Peker E, Gülşen I, Kaba S, Tuncer O Genetic counseling (Geneva, Switzerland) (2015)
[28]
Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome. — Cafferkey M, Ahn JW, Flinter F, Ogilvie C American journal of medical genetics. Part A (2014)
[29]
Lifetime requirement of the methionine cycle for neuronal development and maintenance. — Shea TB, Rogers E Current opinion in psychiatry (2014)
[30]
5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. — Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S et al. American journal of medical genetics. Part A (2013)
[31]
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). — Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ et al. American journal of medical genetics. Part A (2012)
[32]
Cerebral folate deficiency: a neurometabolic syndrome? — Mangold S, Blau N, Opladen T, Steinfeld R, Wessling B, Zerres K et al. Molecular genetics and metabolism (2011)
[33]
Genetic dissection of dopaminergic and noradrenergic contributions to catecholaminergic tracts in early larval zebrafish. — Kastenhuber E, Kratochwil CF, Ryu S, Schweitzer J, Driever W The Journal of comparative neurology (2010)
[34]
The tyranny of the idea of cure (1967). — Robinson R Developmental medicine and child neurology (2008)
[35]
Neuroimaging aspects of Aicardi syndrome. — Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G American journal of medical genetics. Part A (2008)
[36]
High prevalence of infantile encephalitic beriberi with overlapping features of Leigh's disease. — Rao SN, Mani S, Madap K, Kumar MV, Singh L, Chandak GR Journal of tropical pediatrics (2008)
[37]
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. — Wühl E, Kogan J, Zurowska A, Matejas V, Vandevoorde RG, Aigner T et al. American journal of medical genetics. Part A (2007)
[38]
Selective expression of Knot/Collier, a transcriptional regulator of the EBF/Olf-1 family, endows the Drosophila sensory system with neuronal class-specific elaborated dendritic patterns. — Hattori Y, Sugimura K, Uemura T Genes to cells : devoted to molecular & cellular mechanisms (2007)
[39]
Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome? — Tanteles GA, Kurup B, Rauch A, Splitt MP Clinical dysmorphology (2006)
[40]
Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16. — Chandler KE, Del Rio A, Rakshi K, Springell K, Williams DK, Stoodley N et al. Brain : a journal of neurology (2006)
[41]
Cortical progenitor cells in the developing human telencephalon. — Howard B, Chen Y, Zecevic N Glia (2006)
[42]
Study of tyrosine hydroxylase immunoreactive neurons in neonate rats lactationally exposed to 2,4-dichlorophenoxyacetic Acid. — Garcia G, Tagliaferro P, Ferri A, Evangelista de Duffard AM, Duffard R, Brusco A Neurotoxicology (2004)
[43]
Expression of septin 3 isoforms in human brain. — Takehashi M, Tanaka S, Stedeford T, Banasik M, Tsukagoshi-Nagai H, Kinoshita N et al. Gene expression (2004)
[44]
Involvement of BREK, a serine/threonine kinase enriched in brain, in NGF signalling. — Kawa S, Fujimoto J, Tezuka T, Nakazawa T, Yamamoto T Genes to cells : devoted to molecular & cellular mechanisms (2004)
[45]
A patient with hydranencephaly and PEHO-like dysmorphic features. — Goizet C, Espil-Taris C, Husson M, Chateil JF, Pedespan JM, Lacombe D Annales de genetique (2003)
[46]
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. — Graham JM, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH et al. American journal of human genetics (2001)
[47]
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