Mental Retardation and Head Growth Abnormalities

Sassaman, Edward; Zartler, Ann S.

doi:10.1093/jpepsy/7.2.149

Cited by 11 publications

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“…The prevalence of microcephaly ranges between 1.5 and 8.7 per 10,000 births in Europe and the United States, respectively ( Cragan et al, 2016 ; Morris et al, 2016 ). However, 15%–20% of children with developmental delay have microcephaly ( Sassaman and Zartler, 1982 ; Watemberg et al, 2002 ; Aggarwal et al, 2013 ). Depending on the time of appearance, microcephaly can be classified as primary/congenital or secondary/postnatal ( Passemard et al, 2013 ; Woods and Parker, 2013 ; Zaqout et al, 2017 ).…”

Section: Introductionmentioning

confidence: 99%

Autosomal Recessive Primary Microcephaly: Not Just a Small Brain

Zaqout

Kaindl

2022

Front. Cell Dev. Biol.

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Microcephaly or reduced head circumference results from a multitude of abnormal developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal recessive primary microcephaly (MCPH) is the prototype of isolated primary (congenital) microcephaly, affecting predominantly the cerebral cortex. For MCPH, an accelerating number of mutated genes emerge annually, and they are involved in crucial steps of neurogenesis. In this review article, we provide a deeper look into the microcephalic MCPH brain. We explore cytoarchitecture focusing on the cerebral cortex and discuss diverse processes occurring at the level of neural progenitors, early generated and mature neurons, and glial cells. We aim to thereby give an overview of current knowledge in MCPH phenotype and normal brain growth.

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Section: Introductionmentioning

confidence: 99%

Autosomal Recessive Primary Microcephaly: Not Just a Small Brain

Zaqout

Kaindl

2022

Front. Cell Dev. Biol.

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“…[1] Microcephaly is observed only among 0.1% of general asymptomatic population but its prevalence is 15-20% in children with developmental delay as seen in studies from the west. [23] The risk factors, causes, comorbidities and developmental outcome in children with microcephaly have not been reported from Northern India. Neuroimaging abnormalities in children with microcephaly has been reported in few studies, mostly from outside India.…”

Section: Introductionmentioning

confidence: 99%

Clinical profile of children with developmental delay and microcephaly

Aggarwal

Mittal

Patil

et al. 2013

Journal of Neurosciences in Rural Practice

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Aim:To study the profile of children with developmental delay and microcephaly.Materials and Methods:Children attending child development clinic with developmental delay were evaluated as per protocol. Z scores of head circumference were calculated using WHO charts. Clinical, radiological and etiological profile of those with microcephaly and those without was compared.Results:Of the 414 children with developmental delay 231 had microcephaly (z score ≤ -3). Mean age of children with microcephaly was 35.1 ± 27.9 months (range 4-184), males (72.7%). Comorbidities were epilepsy (42.9%), visual abnormality (26.4%), hearing abnormality (16.9%). Mean DQ was 29.75 + 17.8 in those with microcephaly was significantly lower compared to the rest (P = 0.002). Secondary microcephaly was associated with cerebral palsy in 69.7%. Other causes were congenital infections (4), inborn error of metabolism (3), post-meningoencephalitis (5), malformations (12), and syndromic (13). Neuroimaging was done in 118 (51.1%) cases of which 104 (88.1%) were abnormal. On comparison children with microcephaly had more epilepsy, lower developmental quotient, vision abnormalities findings as compared to normocephalic children with developmental delay (P > 0.05).Conclusion:Microcephaly was associated with lower, DQ, higher comorbidities in children with developmental delay. Spastic CP is commonly associated with microcephaly.

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“…Typically, a cutoff of more than 2 standard deviations (SDs) below the mean or less than the 3rd percentile is used for microcephaly diagnosis; however, other cutoff values such as more than 3 SD and less than the 5th or 10th percentile can be used as well (Opitz and Holt, 1990 ; Raymond and Holmes, 1994 ; Ashwal et al, 2009 ). The prevalence of microcephaly is between 1.5 and 8.7 per 10,000 births in Europe and the US, respectively (Cragan et al, 2016 ; Morris et al, 2016 ), and ~15–20% of children with developmental delay are reported to have microcephaly (Sassaman and Zartler, 1982 ; Watemberg et al, 2002 ; Aggarwal et al, 2013 ). Microcephaly can manifest as the only phenotype without other obvious morphologic or functional abnormalities (e.g., cortical- or extra-cortical malformations, and intellectual disability), as in the case of “isolated microcephaly”; or it can be accompanied by neurological or psychiatric conditions, but without cortical or extra-cortical malformations, as in the case of “non-syndromic microcephaly”.…”

Section: Introductionmentioning

confidence: 99%

Transcription factors in microcephaly

Lim

2023

Front. Neurosci.

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Higher cognition in humans, compared to other primates, is often attributed to an increased brain size, especially forebrain cortical surface area. Brain size is determined through highly orchestrated developmental processes, including neural stem cell proliferation, differentiation, migration, lamination, arborization, and apoptosis. Disruption in these processes often results in either a small (microcephaly) or large (megalencephaly) brain. One of the key mechanisms controlling these developmental processes is the spatial and temporal transcriptional regulation of critical genes. In humans, microcephaly is defined as a condition with a significantly smaller head circumference compared to the average head size of a given age and sex group. A growing number of genes are identified as associated with microcephaly, and among them are those involved in transcriptional regulation. In this review, a subset of genes encoding transcription factors (e.g., homeobox-, basic helix-loop-helix-, forkhead box-, high mobility group box-, and zinc finger domain-containing transcription factors), whose functions are important for cortical development and implicated in microcephaly, are discussed.

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Mental Retardation and Head Growth Abnormalities

Cited by 11 publications

References 0 publications

Autosomal Recessive Primary Microcephaly: Not Just a Small Brain

Autosomal Recessive Primary Microcephaly: Not Just a Small Brain

Clinical profile of children with developmental delay and microcephaly

Transcription factors in microcephaly

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