Thalamic T2 Hyperintensities and Cognitive Function in Chinese Children With NF-1

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於香港一所大學醫院推行以畸變產物耳聲發射檢查為新生兒進行聽覺普查計劃之可行性

OBJECTIVE: To assess the feasibility of implementing a universal neonatal hearing screening programme using distortion product otoacoustic emission detection at a major teaching hospital in Hong Kong. DESIGN: Descriptive study and questionnaire. SETTING. Teaching hospital, Hong Kong. METHODS: A total of 1064 infants, together with their mothers, were successfully recruited for the study. The participation rate was 99.3%. A three-stage hearing screening protocol using distortion product otoacoustic emission detection was adopted. Each of the participating infants was screened on three separate occasions (day 1-4, day 5-14, and day 21-30 after birth), irrespective of the test results. A questionnaire was administered to 364 randomly selected mothers to determine whether as consumers of the hearing screening service, mothers would find screening desirable. RESULTS: Results of the screening demonstrated an incidence of permanent bilateral hearing loss (>or=40 dB in the better ear) of 0.28%. The results also showed that 3.5% of the screened infants were referred for subsequent diagnostic audiological assessment, including those suspected with unilateral as well as bilateral hearing loss. Data obtained were comparable to other reported results obtained using multi-stage screening protocols. Taking both the false positive rate and the default rate into consideration, the most appropriate time for screening in this hospital setting appeared to be around day 5 to 14 when infants returned to the hospital's day centre as out-patients for routine medical follow-up. Since this day centre service is not generally provided by all maternity hospitals in Hong Kong, an alternative time for screening would be around day 21 to 30 when infants could return as out-patients solely for the hearing test. The results of the questionnaire suggested that most mothers thought a neonatal hearing screening would be desirable (91.35%). The majority (81.70%) indicated a preference for screening either within a few days of birth at the maternity ward prior to discharge from the hospital, or between 5 and 30 days when returning to the hospital as an out-patient. CONCLUSION: It was concluded that a universal neonatal hearing screening programme could be readily implemented in a maternity hospital setting in Hong Kong.published_or_final_versio

Surgical management of a drooling child

Drooling is a physiological process in infants. When it persists beyond the age of 4 years, it becomes a clinical symptom. Drooling is a common problem among children of all ages with a neurological deficit. It causes significant decrease in the quality of life of the children and their families. Parents often accept the disability because they are not aware that treatment is available. Doctors should recognise the problem during a consultation and discuss the available management options. Patients should be reffered to a drooling clinic that adopts a multi-disciplinary approach. Management of drooling has been evolving over the last thirty years. Surgery has become a safe and effective management option.published_or_final_versio

T2-Weighted Hyperintensities in Neurofibromatosis Type 1: Their Impact on Cognitive Function in Chinese Children

Poster Review Session 1: Genetics, Dysgenesis, and Metabolic DiseaseLink_to_subscribed_fulltex

Mental function of children with developmental delay and macrocephaly

Conference Theme: Paediatric priorities in the 21st centur

Leukodystrophy in a Chinese boy: a novel FUCA1 mutation causing Fucosidosis (Case Report)

Poster Session - Clinical Practice (Diagnosis): no. 139Fucosidosis is a autosomal recessive neurodegenerative condition. It is a lysosomal storage disorder caused by deficient α-1-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins in various tissues. We report a 5-year-old Chinese boy with parental consanguinity. He presented with global developmental delay and magnetic resonance imaging evidence of leukodystrophy. He was later found to have decreased α-fucosidase activity in peripheral leukocytes (2.4nmol/mg protein/hr; control 24–162) and skin fibroblast cultures (0.24nmol/mg protein/hr; control 96–360). His development became static at 2.5 years and deteriorated gradually after that. The FUCA-1 gene was analyzed by generating complementary DNA from total RNA isolated from his (cultured) skin fibroblasts. Two known homozygous polymorphism, S264C (809C3G) and Q281R (860A3G), were detected. A homozygous single-base substitution (396T3A) was found in exon 2, causing a stop codon mutation (Y126X). This sequence is not found within the FUCA pseudogene and is a novel mutation. Previously, 22 mutations of the FUCA1 gene and 3 additional mutations have been reported. Including our report, the 26 FUCA1 mutations are predominantly nonsense mutations (19/26), resulting from either point mutations or deletions. The relative scarcity of missense mutations (4/26) may imply the presence of alternate or compensatory enzymatic pathways capable of modifying the clinical severity. Identification of molecular defect in this child could help future prenatal diagnosis for this family

T2-weighted hyperintensities (unidentified bright objects) in children with neurofibromatosis 1: Their impact on cognitive function

The impact of magnetic resonance imaging (MRI)-identified T2-weighted hyperintensities (unidentified bright objects) on the cognitive function of children with neurofibromatosis 1 is controversial. We recruited 32 right-handed children with neurofibromatosis 1 (22 boys, 10 girls) aged between 5 and 16 years (mean age 10.2 years) for magnetic resonance imaging examinations and neuropsychologic evaluation. Statistical analysis was performed to evaluate the significance of the hyperintensities. Twenty-four children had unidentified bright objects, whereas eight children did not. Using the t-test, thalamic lesions were associated with lower intellectual function (P = .031). Left globus pallidus hyperintensities were associated with a lower attention score (P = .04), and right middle cerebellar peduncle hyperintensities were associated with a lower sensorimotor score (P = .05). The size of the thalamic lesions correlated with cognitive function (P < .05). Among the group with unidentified bright objects, there was a significant association between more involved sites on the dominant hemisphere and impaired verbal function (r = -.55; P = .005). Unidentified bright objects in the thalamus, globus pallidus, and middle cerebellar peduncles and the laterality of the lesions had an impact on cognitive function.link_to_subscribed_fulltex