Newborn and infant examination / screening

Which ONE of the following conditions are currently screened for as part of the NHS newborn blood spot (NBS) screening programme?

1. Hepatitis B

2. Cystic fibrosis

3. HIV

4. Coeliac disease

5. Gilbert’s syndrome

Currently the screening programme tests for the following conditions:

• Sickle cell disease (SCD)

• Cystic fibrosis (CF)

• Congenital hypothyroidism (CHT)

• Inherited metabolic diseases (IMDs). These are genetic diseases that affect the metabolism and include:

  • phenylketonuria (PKU)

  • medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

  • maple syrup urine disease (MSUD)

  • isovaleric acidaemia (IVA)

  • glutaric aciduria type 1 (GA1)

  • homocystinuria (HCU)

References

• NHS newborn blood spot (NBS) screening programme (PHE); Newborn blood spot test (NHS Choices)

• Newborn and infant physical examination screening: programme overview (gov.uk); Newborn physical examination (NHS Choices); Newborn hearing screen (NHS Choices)​

• Your baby's health and development reviews (NHS Choices) 

• 8-week check: CVS (murmurs e.g. PDA)

​Growth & Development - growth charts

You see an 18-month-old girl in your afternoon surgery with her mother. The health visitor has raised concerns regarding poor weight gain. She was born at 34 weeks' gestation.

In the assessment of growth and development in this child, which ONE of the following statements is true? 

1. The body mass index (BMI) centile is a better indicator of underweight than the weight centile

2. Height should be determined using a measuring tape

3. When plotting weight measurements on a growth chart, gestational correction should continue until one year of age

4. There are separate growth charts for breastfed and bottlefed babies

5. Weight loss in the first two weeks after birth requires referral to a paediatrician

The UK-WHO growth charts can be used for all ethnic groups and should be used for all infants however they are fed. Gestational correction should continue until at least one year of age and until two years for infants born before 32 weeks.

Most babies lose some weight after birth, but 80% will have regained this by two weeks of age. Weight gain in the early days varies a lot from baby to baby, and so there are no lines on the growth chart between zero and two weeks to reflect this. By two weeks of age, most babies will be on a centile close to their birth centile. In a child over two years of age, the BMI centile is a better indicator off underweight than the weight centile. A length board or mat should be used to determine length; do not use measuring tape.

Resource:

• RCPCH. UK-WHO growth charts - 2-18 years.

QUESTION

A 5-year-old girl is brought to the surgery by her parents who are worried that she is a lot shorter than her classmates. On examination she has a webbed neck. She is on the 10th centile for weight and below the 3rd centile for height. What is the SINGLE MOST appropriate INITIAL investigation for this patient?

1. Observation of feeding and parental–child interaction in home environment

2. Echocardiogram

3. Radiological assessment of bone age

4. Chromosomal analysis

5. Thyroid function tests

This case describes a girl with Turner’s syndrome. It is characterised by a 45 XO karyotype, and occurs in the population with a frequency of 1 in 2,500 live births. A wide range of somatic features are reported but are present with varying frequency. The most common are:

• Webbed neck

• Broad shield chest with widely spaced nipples

• Cubitus valgus

• Short 4th metacarpal

• Lymphoedema of the extremities in the neonate - particularly the feet

• Low set ears in up to 80%

• Low hairline

• Hypoplastic nails

• Hypertension, which may be idiopathic or may be secondary to coarctation of the aorta.

References

• UK-WHO growth charts and resources, 0-18 years (RCPCH); see RCPCH for UK-WHO child growth charts.

• Birth to five development timeline (NHS Choices)

• Restricted growth (dwarfism) (NHS Choices)

• Growing pains (NHS Choices) 

Stammering

• Stammering (NHS Choices)​

• British Stammering Association (stammering.org) 

Learning disability

• Learning disability (NHS Choices)

• Learning disabilities (NHS England)

Early onset behavioural / emotional disorders (ADHD, Autism, Conduct disorders, Attachment disorders)

• see Mental Health