Ann Acad Med Singap
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Ann Acad Med Singap · Dec 2008
Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening.
This study was to investigate the current status of neonatal screening in China, to further clarify the incidences of hyperphenylalaninemia (HPA) and congenital hypothyroidism (CH). From 2000 to 2007, a total of 17,961,826 newborns had been screened for HPA and 1527 cases were detected, giving a HPA prevalence of 1:11,763. At the same time, 18,284,745 newborns had also been tested for CH, with 8918 cases being detected (1:2050). ⋯ The overall prevalence of an inborn errors of metabolism identified was 1 in 5800 healthy newborns, with hyperphenylalaninemia being the most common. Neonatal screening had developed rapidly in China in recent years, and a pilot study using tandem mass spectrometry has been started. The biggest challenge is still to increase coverage to the entire country, especially in the mid-western area.
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Ann Acad Med Singap · Dec 2008
A multidisciplinary approach to paediatric hearing loss: programme at the centre for hearing intervention and language development, National University Hospital, Singapore.
The objective is to describe the multidisciplinary management programme at the National University Hospital (NUH) in Singapore for children with hearing impairment (HI). Over 99.95% of babies born at NUH have hearing tested with both otoacoustic emission and automated auditory brainstem response tests by 6 weeks of age. The referral rate to Otolaryngology is 0.5%. ⋯ Other investigations are directed by history and clinical examination. There is now a very wide range of increasingly sophisticated medication, neuro-otologic external, middle and inner ear surgery, hearing aids, middle ear implants and cochlear implants available to improve hearing. A multidisciplinary team from neonatology, paediatrics, otolaryngology, audiology, auditory verbal and speech therapy, ophthalmology, radiology, and psychology working closely with the child, family and schools is needed to develop a cost-effective and comprehensive management programme for paediatric HI.
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Issues pertaining to the diagnosis and management of inborn errors of metabolism (IEM) in Malaysia included low awareness of atypical and variable presentations in IEMs leading to delayed diagnosis or treatment, absence of reliable population data on IEMs and involvement of multiple siblings in the same family due to consanguinity. The importance of careful family history taking and genetic counselling are emphasised. Selected testing of ill infants and children for IEM yielded a positive 2% (264/13,500) results for IEMs in Malaysia. ⋯ Confirmatory studies of IEMs are an important aspect of management of IEMs. There is a need for more metabolic specialists and funding for diagnosis and treatment of IEMs in Malaysia. Long-term care issues and cost-effectiveness of IEM therapy, supportive and preventive aspects will need further studies in Malaysia.
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Ann Acad Med Singap · Dec 2008
Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years.
A novel therapeutic strategy for phenylketonuria (PKU) has been initiated in Japan. Hyperphenylalaninemia (HPA) results from a phenylalanine hydroxylase (PAH) enzyme deficiency or a deficiency of its cofactor, tetrahydrobiopterin (BH4). BH4 can normalize blood phenylalanine levels in BH4 deficiency, but typically not in PKU. However, since 1999 it has been reported that many HPA patients (serum phenylalanine <20 mg/dL) showed a gradual decrease of serum phenylalanine levels after 24 hours from BH4 loading. The BH4 responsiveness seems to be regulated in mild PKU by PAH mutations, and affected by the BH4 dose and administration period. ⋯ A total of 31 patients was detected in the past 10 years, and the incidence detected using the provisional diagnostic criteria had increased to 25% among PAH deficient patients. BH4 treatment for BH4-responsive mild PKU is a new and effective pharmacotherapy, which replaces or liberalises the phenylalanine-restricted diets for a considerable number of mild PKU patients.
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Ann Acad Med Singap · Dec 2008
Newborn screening in Pakistan - lessons from a hospital-based congenital hypothyroidism screening programme.
We are living in a time of unprecedented increase in knowledge and rapidly changing technology. Such biotechnology especially when it involves human subjects raises complex ethical, legal, social and religious issues. The establishment of newborn screening programmes in developing countries poses major challenges as it competes with other health priorities like control of infectious diseases, malnutrition and immunization programmes. ⋯ However due to missing data links spanning several years, we were unable to calculate its true incidence during this period. In order to estimate the incidence of congenital hypothyroidism (CH) we reviewed in detail data over 10 months in 2008, a period where there was better compliance for repeat thyroid stimulating hormone (TSH) testing, and found 2 babies with CH. This gave an estimated incidence of 1 in 1600 live births.