No abstract

Children with genetic syndromes frequently have feeding problems and swallowing dysfunction as a result of the complex interactions between anatomical, medical, physiological, and behavioral factors. Feeding problems associated with genetic disorders may also cause feeding to be unpleasant, negative, or even painful because of choking, coughing, gagging, fatigue, or emesis, resulting in the child to stop eating and to develop behaviors that make it difficult, if not impossible, for a parent to feed their child. In addition, limited experiences with oral intake related to the medical or physical conditions, or other variables such as prematurity, often result in a failure of the child's oral motor skills to develop normally. For example, a child with Pierre Robin sequence may be unable to successfully feed orally, initially, due to micrognathia and glossoptosis. Oral-motor dysfunction may develop as a result of both anatomical problems, (e.g., cleft lip/palate), lack of experience (e.g., s/p. surgery), or oral motor abnormalities (e.g., brain malformation). Neuromotor coordination impairments such as those associated with Down syndrome (e.g., hypotonia, poor tongue control, and open mouth posture) frequently interfere with the acquisition of effective oral-motor skills and lead to feeding difficulties. Management of these phenomena is frequently possible, if an appropriate feeding plan exist that allows for three primary factors: (1) feeding program must be safe, (2) feeding program must support optimal growth, and (3) feeding program must be realistic. Researchers have demonstrated the utility of behavioral approaches in the treatment of feeding disorders, such as manipulations in the presentation of foods and drink and consequences for food refusal and acceptance (e.g., praise, extinction, contingent access to preferred foods). However, because a child's failure to eat is not frequently the result of a single cause, evaluation and treatment are typically conducted by an interdisciplinary team usually consisting of a behavioral psychologist, pediatric gastroenterologist, speech pathologist, nutrition, and sometimes other disciplines. This chapter provides an overview of some of the feeding difficulties experience by some of the more common genetic disorders including identification, interventions, and management.

Objective Evaluate neuropsychological functioning in children with non-syndromic cleft of the lip and/or palate (NSCL/P) through profile variance within type of cleft and comparisons to controls. Methods Children ages 7 to 17 years participated; 66 had a diagnosis of NSCL/P and 87 were healthy controls. Neuropsychological tests of language, visual-perceptual, executive functioning, and memory skills were administered. Between- and within-group differences were assessed. Results Within cleft types, children with NSCLP had an even profile with equal Verbal and Performance IQ (VIQ and PIQ, respectively). Children with non-syndromic cleft palate only (NSCP) had significantly lower VIQ than PIQ, while children with non-syndromic cleft lip only (NSCL) showed a nonsignificant trend for higher VIQ than PIQ. Overall, subjects with NSCL/P performed lower on measures of expressive language and verbal memory than controls. Conclusions While deficits in verbal and memory skills for children with NSCL/P remain apparent, there is still uncertainty around the possible influence of cleft type on the pattern of deficits.

Both pharyngeal flap and double-opposing Z-plasty proved equally effective at reducing hypernasality when the selection of the surgical procedures was based on preoperative ratings of perceived hypernasality and evaluation of velopharyngeal physiology. Severity of the VPI is an important factor when considering surgical management of VPI. Thorough preoperative evaluations of patients with VPI are essential in appropriate treatment planning.

Objective To identify regional cerebellar structural differences in boys and girls with nonsyndromic cleft of the lip and/or palate and determine whether these differences are related to speech impairment. Design Between 2003 and 2007, measures on cerebellar volume were obtained on 43 children with nonsyndromic cleft of the lip and/or palate and 43 age- and sex-matched, healthy controls. Children with the cleft condition also received speech evaluations. Children with nonsyndromic cleft of the lip and/or palate were recruited from clinic records, and controls (screened for medical, psychiatric, speech/language, and behavioral concerns) were recruited from the local community. All tests were administered at a large midwestern hospital. Boys and girls with nonsyndromic cleft of the lip and/or palate were compared with the healthy controls on global and regional measures of cerebellar volume. Areas of significant difference were then correlated with measures of speech to assess relationships in children with nonsyndromic cleft of the lip and/or palate. Results Boys with nonsyndromic cleft of the lip and/or palate had smaller cerebellums than controls (p = .002); whereas, for girls, only regional reductions in size reached significance (corpus medullare, p = .040). Cerebellum size was correlated with articulation for boys (p = .045). Conclusions These findings lend support to previous research documenting abnormal brain structure in children with nonsyndromic cleft of the lip and/or palate and suggest that the cerebellum may play a role in speech deficits along with other structural causes, at least in boys.