Objective Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an inherited adrenal steroid synthesis disorder included in Dutch newborn screening (NBS) since 2002. Screening ...

Background and objective Cardiorespiratory polygraphy (CRP) is the predominant technology used to diagnose obstructive sleep apnoea (OSA) in tertiary centres in the UK. Nocturnal pulse oximetry (NPO) ...

Lack of access to primary care services, by not being registered with a general practitioner (GP), is a source of health inequality.1 Unregistered children are at risk of missing healthcare activity, ...

Mixed longitudinal data on the physical changes at puberty in 228 normal boys are presented together with normal standards for stages of genital and pubic hair development. The genitalia began to ...

Background Children and young people with severe neurodisabling conditions (CYPSND)experience severe functional gastrointestinal symptoms and dependence on artificial nutrition. ‘Gastrointestinal ...

OBJECTIVE A two year survey of androgen insensitivity syndrome (AIS) to assess current diagnostic and management strategies. METHODS Cases were ascertained by inclusion on the British Paediatric ...

Background: Vision screening addresses the visual impairments that impact on child development. Tests of long-sightedness are not found in most school screening programmes. The evidence linking ...

AIM To establish a reference range in the paediatric population for the new glomerular filtration rate (GFR) marker, cystatin C, and to compare it with that of creatinine. METHODS Cystatin C and ...

Paediatric clinical pharmacology is the scientific study of medicines in children and is a relatively new subspecialty in paediatrics in the UK. Training encompasses both the study of the ...

Objective Boys born with posterior urethral valves (PUV) often experience bladder development issues due to urethral obstruction during gestation. Despite early surgical intervention, bladder ...

Congenital sucrase–isomaltase (SI) deficiency is a rare genetic condition characterised by a deficiency in the brush-border SI enzyme, resulting in an inability to metabolise sucrose and starches. Six ...

Introduction Nocturnal pulse oximetry can be used to screen for obstructive sleep apnoea (OSA) using the McGill Oximetry Score (MOS). The MOS has a time threshold for a technically adequate study of 6 ...