This study was undertaken to document the phenotype of Kabuki (Niikawa-Kuroki) syndrome in patients from Australia and New Zealand, with particular emphasis on growth patterns, behavior, and relationship between head circumference and intellectual level. Data on 27 children and adults with Kabuki (Niikawa-Kuroki) syndrome from Australia and New Zealand were collected by questionnaire and clinical assessment. The patients ranged in age from 7 months to 36 years with a mean age of 7 years and 2 months. The mean age at diagnosis was 3(5/6) years, but in most cases, the facial phenotype was evident from infancy. The minimum birth prevalence was calculated at 1 in 86,000. Three of our patients died. Parents reported a behavior phenotype characterized by an excellent long-term memory and avoidance of eye contact. No correlation was found between head circumference and severity of intellectual disability. Eight of 14 patients over the age of 5 years were overweight or obese. Six of these eight patients had failure to thrive in infancy. One patient developed insulin-dependent diabetes mellitus in adolescence. Some individuals with Kabuki (Niikawa-Kuroki) syndrome show a characteristic growth profile with failure to thrive in infancy progressing to obesity or overweight in middle childhood or adolescence. A behavior phenotype was noted which requires further investigation. Head size is not a predictor of degree of intellectual disability.

Dysphagia experienced as a consequence of neurodegenerative disease can have severe consequences on a patient's health and well-being. Regular assessment of swallowing function can assist to achieve adequate nutrition and hydration. Here we review subjective swallowing assessments currently available are suitable for use in people with neurodegenerative disease. Measurement properties were reviewed for each tool and coverage of the World Health Organization's International Classification of Functioning, Disability and Health (WHO ICF) was considered. Assessments were identified following a review of the published literature Instruments were reviewed on the basis of reliability and validity, as well as administrative properties, such an interpretability, acceptability, and feasibility. Tools were also evaluated according to the WHO ICF framework. In total, 19 studies were identified for full-text review from 13,315 abstracts. Nine self-reported dysphagia assessment tools suitable for use in progressive neurological disorders were identified. The Swallowing Quality of Life Questionnaire (SWAL-QOL) yields the strongest combination of reliability (including internal consistency and test-retest reliability) and convergent validity while simultaneously covering all WHO ICF domains. Lengthy administration time was identified as a limitation of the SWAL-QOL. The review highlights a relative lack of well-validated self-report questionnaires in dysphagia for people with progressive neurological disease. Additional validation and evaluation of the clinical utility of the tools currently available is required to further promote an informed selection of available assessments.