Literature DB >> 2311830

Hidden intelligence of a multiply handicapped child with Joubert syndrome.

A L Ziegler1, T Deonna, A Calame.   

Abstract

A child with Joubert syndrome (episodic hyperpnoea, abnormal eye-movements and ataxia) was followed from birth to eight years of age. Although severe mental retardation was suspected until approximately five years of age, unexpected and exceptional mental capacities were evident at later follow-up. Adequate testing and appropriate stimulation of children with such a severe early motor disorder are difficult, so they may give a false impression of mental retardation. The history of this child challenges the notion that mental retardation is part of Joubert syndrome.

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Year:  1990        PMID: 2311830     DOI: 10.1111/j.1469-8749.1990.tb16933.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  3 in total

1.  A case of cranial meningocele associated with Joubert syndrome.

Authors:  T Suzuki; M Hakozaki; N Kubo; K Kuroda; A Ogawa
Journal:  Childs Nerv Syst       Date:  1996-05       Impact factor: 1.475

2.  Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

Authors:  Angela C Summers; Joseph Snow; Edythe Wiggs; Alexander G Liu; Camilo Toro; Andrea Poretti; Wadih M Zein; Brian P Brooks; Melissa A Parisi; Sara Inati; Dan Doherty; Meghana Vemulapalli; Jim C Mullikin; Thierry Vilboux; William A Gahl; Meral Gunay-Aygun
Journal:  Am J Med Genet A       Date:  2017-05-12       Impact factor: 2.802

Review 3.  Joubert syndrome: insights into brain development, cilium biology, and complex disease.

Authors:  Dan Doherty
Journal:  Semin Pediatr Neurol       Date:  2009-09       Impact factor: 1.636

  3 in total

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