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This study provides descriptive information in the areas of oromotor abilities and communication to better understand the spectrum of disability in individuals with Joubert syndrome. Participants included 21 individuals with the diagnosis of Joubert syndrome (mean age 10.45 years). Participants completed oromotor and receptive language measures. In addition, all of the participants' speech and gesture communication from a narrative task was coded and analyzed from videotape. Caregivers reported the participants' level of fine and gross motor function. The results show that individuals with Joubert syndrome exhibit a distinct oromotor pattern consistent with verbal and lingual apraxias. Despite significant motor skills deficits and oculomotor apraxia, persons with Joubert syndrome produced gestures when communicating, and those whose speech was less intelligible used a higher rate of gesture compared with those with greater verbal output. These findings suggest a new form of apraxia not previously described in the condition and are consistent with previous research that suggests that persons with Joubert syndrome typically do not exhibit classic symptoms of autism spectrum disorder. [ABSTRACT FROM AUTHOR]

This study describes the relationship between parenting stress and behavior in children with Joubert syndrome, a rare genetic neurodevelopmental disorder. Parents (N = 43) reported severely impaired child adaptive behaviors. Most children did not show maladaptive behaviors, but a subset of approximately 20% displayed significant problems in areas such as inattention, overactivity, social withdrawal, and atypical behaviors. Mothers (59%) and fathers (40%) reported elevated levels of parenting stress. A hierarchical regression, including demographics, adaptive behavior, and maladaptive behavior, predicted 67% of the variance in mothers' stress and 40% of the variance in fathers' stress. Maladaptive behaviors uniquely contributed to maternal and paternal stress. The child's adaptive behavior level contributed significantly to parenting stress for mothers but not for fathers. Findings provide a better understanding of the impact of child behavior on parents caring for a child with Joubert syndrome. [ABSTRACT FROM AUTHOR]

This retrospective study examined predictors of outcome for children with autism following 6 and 12 months of early intensive behavioral intervention. Potential predictor variables included pretreatment functioning, age at onset of treatment, treatment intensity, family involvement, and physical characteristics (e.g., brain abnormalities, dysmorphology). For the 19 study participants, presence of dysmorphic features was the only variable that predicted response to treatment after 6 months (R² = .58). Dysmorphology was associated with worse outcomes. After 12 months, both dysmorphology and a history of regression predicted poorer response to treatment (R² = .67). Children who made the most progress in treatment had pretreatment language skills and normal physical features. Dysmorphic features in children with autism may represent abnormalities in prenatal development that are associated with poorer child outcomes. [ABSTRACT FROM AUTHOR]

Summary: This study identified ways that telehealth systems are used to enhance service delivery for children with special health care needs. Various health professionals utilize telehealth to provide physical and behavioral health care, to conduct developmental evaluations, and to address family/social concerns. Telehealth is used most for follow-up visits after in-person specialty care and for child evaluation with treatment recommendations to local care providers. Telehealth systems have the potential to increase access to specialized services and to enhance community-based services for rural and underserved children. However, inadequate reimbursement poses a significant barrier to the development of these services. Clin Pediatr. 2001;40:93-98 [ABSTRACT FROM AUTHOR]

Summarizes the common consequences of traumatic brain injury (TBI) and reviews a process-oriented approach to assessing children with moderate to severe TBI during rehabilitation. Assessment issues during rehabilitation; Course of recovery; Supporting transition through communication.