Literature DB >> 25237747

Neuropsychological function in a child with 18p deletion syndrome: a case report.

Brian L Willoughby1, Marcus Favero, Ganeshwaran H Mochida, Ellen B Braaten.   

Abstract

We report the neuropsychological profile of a 4-year-old boy with the rare 18p deletion syndrome. We used a battery of standardized tests to assess his development in intellect, language, visuomotor integration, academic readiness, socialization, and emotional and behavioral health. The results showed borderline intellectual function except for low average nonverbal reasoning skills. He had stronger receptive than expressive language skills, although both were well below his age group. He had impaired visuomotor integration and pre-academic skills such as letter identification. Emotional and behavioral findings indicated mild aggressiveness, anxiety, low frustration tolerance, and executive function weaknesses, especially at home. Interestingly, he showed social strengths, responding to joint attention and sharing enjoyment with his examiner. With its assessment of development in many domains, this case report is among the first to characterize the neuropsychological and psychiatric function of a young child with 18p deletion syndrome. We discuss the implications of our findings for clinical practice.

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Year:  2014        PMID: 25237747      PMCID: PMC4176699          DOI: 10.1097/WNN.0000000000000034

Source DB:  PubMed          Journal:  Cogn Behav Neurol        ISSN: 1543-3633            Impact factor:   1.600


  6 in total

1.  Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

Authors:  Ulrika Wester; Marie-Louise Bondeson; Christina Edeby; Göran Annerén
Journal:  Am J Med Genet A       Date:  2006-06-01       Impact factor: 2.802

2.  Psychiatric syndromes in individuals with chromosome 18 abnormalities.

Authors:  Juan Zavala; Mercedes Ramirez; Rolando Medina; Patricia Heard; Erika Carter; AnaLisa Crandall; Daniel Hale; Jannine Cody; Michael Escamilla
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2010-04-05       Impact factor: 3.568

3.  Intellectual, behavioral, and linguistic characteristics of three children with 18p- syndrome.

Authors:  R W Thompson; J E Peters; S D Smith
Journal:  J Dev Behav Pediatr       Date:  1986-02       Impact factor: 2.225

4.  Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

Authors:  Marie-France Portnoï; Nicolas Gruchy; Sandrine Marlin; Lina Finkel; Françoise Denoyelle; Christèle Dubourg; Sylvie Odent; Jean-Pierre Siffroi; Yves Le Bouc; Muriel Houang
Journal:  Clin Dysmorphol       Date:  2007-10       Impact factor: 0.816

5.  Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation.

Authors:  Dusica Babovic-Vuksanovic; S C Jenkins; R Ensenauer; D C Newman; S M Jalal
Journal:  Am J Med Genet A       Date:  2004-01-30       Impact factor: 2.802

6.  Familial deletion 18p syndrome: case report.

Authors:  Bruno Maranda; Nicole Lemieux; Emmanuelle Lemyre
Journal:  BMC Med Genet       Date:  2006-07-14       Impact factor: 2.103

  6 in total
  1 in total

1.  Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer-Rokitansky-Kuster-Hauser Syndromes.

Authors:  Monika Anant; Nutan Raj; Neelu Yadav; Arun Prasad; Subhash Kumar; Ajit K Saxena
Journal:  J Pediatr Genet       Date:  2019-10-30
  1 in total

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