Literature DB >> 28748276

Resuming the obsolete term "small head": when microcephaly occurs without cognitive impairment.

Piero Pavone1, Andrea D Praticò2, Martino Ruggieri3, Renata Rizzo3, Raffaele Falsaperla1.   

Abstract

Microcephaly is defined as a head circumference measurement of 2 or 3 standard deviations below the mean for age and sex. However, distinguishing the value of -2 or -3 standard deviations as a cutoff is relevant in the clinical practice, since the limit of -3 standard deviations is more frequently associated with cognitive impairment. The use of ultrasound scans in pregnancy has allowed the identification of subjects with a measurement of the head circumference at the limit of the cutoff for gestational age, but who do not subsequently show cognitive delay. The same is true for newborns with a -2 to -3 standard deviations cutoff, and without anomalous clinical signs, for which a cognitive delay is not easily diagnosed. In this case, to define an infant as being affected by microcephaly (with a prognosis usually recognized as harmful) may be unnecessarily distressful for parents or caregivers. In the cases mentioned, resuming the word "small head" instead of microcephaly to define such subjects could be more appropriate and more appreciated.

Entities:  

Keywords:  Cognition; Microcephaly; Microencephaly; Pediatrics; Primary microcephaly; Small head

Mesh:

Year:  2017        PMID: 28748276     DOI: 10.1007/s10072-017-3079-2

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  20 in total

1.  The second unrelated case with isolated microcephaly and normal intelligence (microcephalia vera)

Authors:  G Abdel-Salam; A E Czeizel
Journal:  Clin Dysmorphol       Date:  2000-04       Impact factor: 0.816

2.  Prenatal screening for microcephaly: an update after three decades.

Authors:  Shari E Gelber; Amos Grünebaum; Frank A Chervenak
Journal:  J Perinat Med       Date:  2017-02-01       Impact factor: 1.901

3.  Identification of microcephalin, a protein implicated in determining the size of the human brain.

Authors:  Andrew P Jackson; Helen Eastwood; Sandra M Bell; Jimi Adu; Carmel Toomes; Ian M Carr; Emma Roberts; Daniel J Hampshire; Yanick J Crow; Alan J Mighell; Gulshan Karbani; Hussain Jafri; Yasmin Rashid; Robert F Mueller; Alexander F Markham; C Geoffrey Woods
Journal:  Am J Hum Genet       Date:  2002-06-03       Impact factor: 11.025

Review 4.  The genetic epidemiology of the form of microcephaly ascribed to mutation at the WDR62 locus.

Authors:  Alan Edmund Stark
Journal:  Ann Transl Med       Date:  2016-08

Review 5.  Microcephaly syndromes.

Authors:  Dianne Abuelo
Journal:  Semin Pediatr Neurol       Date:  2007-09       Impact factor: 1.636

6.  Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

Authors:  Timothy W Yu; Ganeshwaran H Mochida; David J Tischfield; Sema K Sgaier; Laura Flores-Sarnat; Consolato M Sergi; Meral Topçu; Marie T McDonald; Brenda J Barry; Jillian M Felie; Christine Sunu; William B Dobyns; Rebecca D Folkerth; A James Barkovich; Christopher A Walsh
Journal:  Nat Genet       Date:  2010-10-03       Impact factor: 38.330

Review 7.  Many roads lead to primary autosomal recessive microcephaly.

Authors:  Angela M Kaindl; Sandrine Passemard; Pavan Kumar; Nadine Kraemer; Lina Issa; Angelika Zwirner; Benedicte Gerard; Alain Verloes; Shyamala Mani; Pierre Gressens
Journal:  Prog Neurobiol       Date:  2009-12-02       Impact factor: 11.685

8.  ASPM is a major determinant of cerebral cortical size.

Authors:  Jacquelyn Bond; Emma Roberts; Ganesh H Mochida; Daniel J Hampshire; Sheila Scott; Jonathan M Askham; Kelly Springell; Meera Mahadevan; Yanick J Crow; Alexander F Markham; Christopher A Walsh; C Geoffrey Woods
Journal:  Nat Genet       Date:  2002-09-23       Impact factor: 38.330

9.  The predictive value of microcephaly during the first year of life for mental retardation at seven years.

Authors:  H Dolk
Journal:  Dev Med Child Neurol       Date:  1991-11       Impact factor: 5.449

Review 10.  A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.

Authors:  Piero Pavone; Andrea Domenico Praticò; Renata Rizzo; Giovanni Corsello; Martino Ruggieri; Enrico Parano; Raffaele Falsaperla
Journal:  Medicine (Baltimore)       Date:  2017-06       Impact factor: 1.889

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  2 in total

1.  Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis.

Authors:  Piero Pavone; Xena Giada Pappalardo; Andrea Domenico Praticò; Agata Polizzi; Martino Ruggieri; Maria Piccione; Giovanni Corsello; Raffaele Falsaperla
Journal:  J Pediatr Genet       Date:  2020-04-23

2.  POGZ promotes homology-directed DNA repair in an HP1-dependent manner.

Authors:  John Heath; Estelle Simo Cheyou; Steven Findlay; Vincent M Luo; Edgar Pinedo Carpio; Jeesan Lee; Billel Djerir; Xiaoru Chen; Théo Morin; Benjamin Lebeau; Martin Karam; Halil Bagci; Damien Grapton; Josie Ursini-Siegel; Jean-Francois Côté; Michael Witcher; Stéphane Richard; Alexandre Maréchal; Alexandre Orthwein
Journal:  EMBO Rep       Date:  2021-11-10       Impact factor: 9.071

  2 in total

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