Exploring Inequity in Childhood Neurodisability in a Disadvantaged Metropolitan Region in Australia

BackgroundSouth Western Sydney (SWS) region, in the state of New South Wales (NSW) in Australia is a culturally and linguistically diverse area of marked social disadvantage. Using the best available data sources, we aimed to explore the prevalence of children with developmental disability and their access to disability and special education support services, to identify equity gaps. MethodsData on the potential number of children in SWS with neurodisability was identified from the district wide Child Developmental Assessment Service (CDAS) database of public-funded Community Paediatrics services, the NSW/Australian capital territory (ACT) Cerebral Palsy (CP) register, the State-wide Infant Screening-Hearing (SWISH) Program, the Royal Institute for Deaf and Blind Children and the Department of Education. The proportion of children with access to disability services for children up-to 18 years of age was explored from the datasets of the National Disability Insurance Scheme (NDIS). Relative risks were calculated to compare any differences in proportion of supports in SWS compared to NSW. ResultsIn 2018, 503 children (median age 4.3 years) were assessed by CDAS; 65% had autism spectrum disorder (ASD) either alone or in association with global developmental delays and 24% had global developmental delay. The prevalence of CP in SWS was 1.86/1000; with a higher proportion of severe functional and intellectual impairment in SWS compared to the state. The prevalence of sensori-neural hearing loss in SWS was 2.2/1000, and more children in SWS had severe visual impairment compared to the state (P=0.003). Students in support classes with special needs were overrepresented in SWS compared to the state (P<0.0001). There were slightly more children with intellectual disability in SWS supported by the NDIS, but proportions for other conditions were comparable to NSW. Conclusions While available data sources are incomplete, we identified greater proportions of children with neurodisability, experiencing more functional impairment in SWS, compared to NSW; with ASD being the most common neurodisability presenting to developmental clinics. We also identified potential equity gaps in disability service provision. A state-wide child disability register would aid planning and research, with concerted advocacy needed to improve equity in disability support provision in this region.

Feasibility and acceptability of early infant screening for sickle cell disease in Lagos, Nigeria—A pilot study

In Nigeria, about 150000 babies are born annually with sickle cell disease (SCD), and this figure has been estimated to increase by 100% by the year 2050 without effective and sustainable control strategies. Despite the high prevalence, newborn screening for SCD which allows for early prophylactic treatment, education of parents/guardians and comprehensive management is not yet available. This study explored a strategy for screening in early infancy during the first and second immunization visits, determined the prevalence, feasibility and acceptability of early infant screening for SCD and the evaluation of the HemoTypeSC diagnostic test as compared to the high-performance liquid chromatography (HPLC) gold standard. A cross-sectional study was conducted in two selected primary health care centres in Somolu local government area (LGA) in Lagos, Nigeria. Two hundred and ninety-one mother-infant pairs who presented for the first or second immunization visit were consecutively enrolled in the study following written informed consent. The haemoglobin genotype of mother-infant pairs was determined using the HemoTypeSC rapid test kit. Confirmation of the infants’ Hb genotype was done with HPLC. Data were analysed with SPSS version 22. Validity and Predictive value of HemotypeSC rapid screening test were also calculated. Infant screening for SCD was acceptable to 86% of mothers presenting to the immunization clinics. The prevalence of SCD among the infant cohort was 0.8%. The infants diagnosed with SCD were immediately enrolled in the paediatric SCD clinic for disease-specific care. The HemoTypeSC test had 100% sensitivity and specificity for sickle cell disease in early infancy compared to HPLC. This study affirms that it is feasible and acceptable for mothers to implement a SCD screening intervention program in early infancy in Lagos State. The study also demonstrates the utility of the HemotypeSC rapid testing for ease and reduced cost of screening infants for SCD.

Vestibular Infant Screening (VIS)–Flanders: results after 1.5 years of vestibular screening in hearing-impaired children

Due to the close anatomical relationship between the auditory and vestibular end organs, hearing-impaired children have a higher risk for vestibular dysfunction, which can affect their (motor) development. Unfortunately, vestibular dysfunction often goes unnoticed, as vestibular assessment in these children is not standard of care nowadays. To timely detect vestibular dysfunction, the Vestibular Infant Screening–Flanders (VIS–Flanders) project has implemented a basic vestibular screening test for hearing-impaired infants in Flanders (Belgium) with a participation rate of 86.7% during the first year and a half. The cervical Vestibular Evoked Myogenic Potentials (cVEMP) test was applied as vestibular screening tool to map the occurrence of vestibular (mainly saccular) dysfunction in this population. At the age of 6 months, 184 infants were screened. No refers on vestibular screening were observed in infants with permanent conductive hearing loss. In infants with permanent sensorineural hearing loss, a cVEMP refer rate of 9.5% was observed. Failure was significantly more common in infants with severe-profound compared to those with mild-moderate sensorineural hearing loss (risk ratio = 9.8). Since this is the first regional study with a large sample size and successful participation rate, the VIS–Flanders project aims to set an example for other regions worldwide.

Serial Cranial Ultrasound Studies in Preterm Infants

Objective: To study reasonable timing for repeating head ultrasound screenings (HUS) in preterm infants and to find out any change in severity of intraventricular hemorrhage. Materials and Methods: Medical records and ultrasound findings of all preterm infants younger than 32 weeks gestational age (GA) admitted to the neonatal intensive care unit (NICU) at Phramongkutklao Hospital between January 1, 2014 and December 31, 2018 were reviewed retrospectively. Results: One hundred thirty-three infants were included in the present study. Eighty-five infants had at least two HUS and included in discrimination analysis. The positive predictive value for having a normal HUS after two previously normal studies seven or more days apart was 89.30% with a specificity of 80%. Of the 24 preterm infants with IVH, 19 had repeated the cranial ultrasound. This revealed that repeating HUS early (day 7 or earlier), 90% (9/10 infants) found no change in finding, whereas repeating HUS at day 30 or later revealed as high as 76.4% change in findings. Conclusion: Routine screening of cranial ultrasound examinations are recommended for all infants born before 32 weeks GA. If the scan is abnormal, repeating the scan at day 30 or later may be more helpful than as early as day 7. However, if the scan showed no abnormality and had been repeated seven or fewer days apart with the same negative result, subsequent scan may not add benefits. However, these findings need to be proved and may be used only as a guide to design a prospective study in the future. Keywords: Preterm infant, Screening cranial ultrasound, Intraventricular hemorrhage

Is it the right time for an infant screening for Duchenne muscular dystrophy?

Newborn screening (NBS) is an essential, preventive public health programme for early identification of disorders whose early treatment can lead to significant reduction in morbidity and mortality. NBS for Duchenne muscular dystrophy (DMD) has been a controversial matter for many years, because of false positives, the lack of effective drugs and the need of more data about screening efficacy. The still high diagnostic delay of DMD and the current availability of drugs such as steroid, ataluren, eteplirsen, golodirsen and forthcoming new drugs, improving the clinical conditions if early started, make appropriate to begin a concrete discussion between stakeholders to identify best practice for DMD screening. A two-step system CK/DNA screening programme is presented to be performed in male infants aged between 6 months and 42 months involving more than 30,000 male infants. Five to eight DMD subjects are believed to be diagnosed. The pilot project would give the opportunity to test in a small population the feasibility of an infant screening programme, which in the near future could be applicable to an entire country.