Role of Visual Dysfunction in Postural Control in Children With Cerebral Palsy

Introduction: Deficient postural control is one of the key problems in cerebral palsy (CP). Little, however, is known about the specific nature of postural problems of children with CP, nor of the relation between abnormal posture and dysfunction of the visual system. Aim of the study: To provide additional information on the association of abnormalities in postural control and visual dysfunction of the anterior or posterior part of the visual system. Methods: Data resulting from ophthalmologic, orthoptic, neurological, neuro-radiological, and ethological investigations of more than 313 neurologically impaired children were retrospectively analyzed. Results: Abnormal postural control related to ocular and ocular motor disorders consisted of anomalous head control and subsequent abnormal head posture and torticollis. The abnormal postural control related to retrochiasmatical damage of the visual system consisted of a torticollis combined with adjustment of the upper part of the body, as if at the same time adapting to a combination of defects and optimizing residual visual functions. Conclusion: Visual dysfunctions play a distinct role in the postural control of children with CP

Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome?

A father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome. This condition may represent a hitherto undescribed syndrome, although resemblance with the blepharophimosis-ptosis-epicanthus inversus syndrome exists. Inheritance is probably autosomal dominan

Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?

This paper presents a patient with the following malformations: split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome

Visual behaviours of neurologically impaired children with cerebral visual impairment: an ethological study

BACKGROUND/AIMS—Visual functions of neurologically impaired children with permanent cerebral visual impairment (CVI) can be difficult to determine. This study investigated the behavioural profile of CVI children by means of ethological observations in order to gain a better understanding of their visual functions.
METHODS—Video registrations of nine subjects who were unable to undergo more orthodox methods of visual function testing were observed and analysed by an ethologist.
RESULTS—A series of behaviours (direct signs) and supportive or confirming behavioural elements (indirect signs) indicating some visual perception in the children were found.
CONCLUSION—Detailed ethological observations of visual behaviour were shown to be useful for analysing visual functions of children with permanent CVI.

 Keywords: cerebral visual impairment; visual function; visual behaviour; ethological analysi

Traanwegsondage bij jonge kinderen met een aangeboren traanwegobstructie in het Universitair Medisch Centrum Utrecht: doorgaans een effectieve behandeling

OBJECTIVE: To assess the results of lacrimal duct probing in young children with epiphora, due to a congenital nasolacrimal duct obstruction. DESIGN: Retrospective, descriptive. METHOD: Data were collected from medical dossiers on the results of lacrimal duct probing in children (0-48 months) with epiphora that was done in the period from January 1, 1997 to December 31, 2001 at the University Medical Centre in Utrecht, the Netherlands. The percentage of eyes that showed complete resolution of symptoms three months after the final probing was calculated. RESULTS: Of the 89 children who had undergone lacrimal duct probing, seven were excluded and in three children (six eyes) the data could not be retrieved. In 96 of the remaining 116 eyes (83%), the symptoms disappeared: this included 96% of the age group 0-12 months (n = 25), 85% of the 13-24 months-olds (n = 55), 77% of the 25-36 months-olds (n = 22) and 57% of the 37-48 months-olds (n = 14). No complications of probing were seen. CONCLUSION: In most children in the various age groups, epiphora disappeared. Thus, children do not need to be probed in the first year of life out of fear of failure at an older age. Whether or not probing shortens the duration of epiphora cannot be determined on the basis of either this study or the literatur

Retinal dystrophy in long chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

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