Preliminary results on validity and reliability from two prospective cohort studies on a new Neonatal Coma Score.

OBJECTIVE: To collect data on content/face validity and interobserver agreement for a Neonatal Coma Score (NCS) in well full-term neonates and on construct validity in unwell and preterm babies, specifically how the NCS changed with gestational age and illness. DESIGN: Prospective cohort studies. SETTING: Two UK tertiary neonatal units (Sheffield and Leeds). PATIENTS: 151 well full-term (≥37 weeks gestational age) newborn babies recruited between January and February 2020 in Sheffield and April and May 2021 in Leeds; 101 sick preterm and full-term babies admitted to Sheffield neonatal unit between January 2021 and May 2022. INTERVENTION: A new NCS. MAIN OUTCOME MEASURES: Determination of normal values in well babies born ≥37 weeks gestational age; data on how the NCS changes with gestational age and illness. RESULTS: Face validity was demonstrated during development of the NCS. The median NCS of well, full-term newborn babies was 15 and the intraclass correlation coefficient was 0.78 (95% CI 0.70 to 0.84). In the 'well' preterm population, 95% <28 weeks had a score ≥11; 28-31 weeks ≥11; 32-36 weeks ≥13 and 37-44 weeks 14-15. The NCS dropped during periods of deterioration, demonstrating evidence of construct validity. Criterion validity was not assessed. CONCLUSIONS: The NCS has good intraobserver agreement in well full-term babies, with a normal NCS 14-15. The NCS in preterm neonates depended on gestational age, and deterioration from baseline was associated with illness. Further work is needed to determine normal scores each gestational age, reliability at lower levels, how early the NCS identifies deterioration and comparison with other assessment tools to demonstrate criterion validity.

Family experiences of antenatal counselling of spina bifida: a systematic review.

OBJECTIVE: To describe families' experiences of antenatal counselling of spina bifida. DESIGN: Systematic review. METHODS: MEDLINE, CINAHL, PsycINFO and Embase databases were searched using a combination of Medical Subject Headings and text/abstract terms. Case reports, survey results and qualitative interview data were included. The quality of research was evaluated using the Critical Appraisal Skills Programme checklist. RESULTS: 8 papers were included. Families described shock and grief at diagnosis, with some immediately offered termination of pregnancy (TOP) even though they knew little about the condition. Positive and negative aspects of care were found. Teams that were gentle, kind and empathetic, who did not use jargon, and highlighted positive and negative aspects of the baby's life were seen favourably. Callous language, and overly negative or incorrect counselling was not, particularly if there was pressure to agree to TOP. Families based their decisions on how they would cope, the effect on siblings and the baby's likely quality of life. Prenatal surgery was viewed positively. The views of families who chose TOP, were happy with their care, partners, families, and the LGBTQ+ community were under-represented in the literature. CONCLUSIONS: Unlike other conditions where limited data on outcome exist or the spectrum is genuinely broad, the outcomes of children with spina bifida is well described. Poor aspects of antenatal counselling were described frequently by families, and further work is needed to capture the full spectrum of views on antenatal counselling, how it can be improved, and what training and resources healthcare professionals need to perform it better.

Attitudes towards the neurological examination in an unwell neonate: a mixed methods approach.

BACKGROUND: The neurological examination of an unwell neonate can aid management, such as deciding if hypothermia treatment is warranted in hypoxic ischaemic encephalopathy or directing investigations in hypotonic neonates. Current standardised examinations are not designed for unwell or ventilated neonates, and it is unclear how confident paediatricians feel about the examination or what aspects they perform.  AIM: This study aimed to review the confidence of UK paediatricians on the neurological examination in unwell neonates, describe their attitudes towards it, and determine what could improve practice. METHODS: An explanatory sequential mixed methods approach (QUAN → QUAL) with equal weighting between stages. A survey on attitudes to the neonatal neurological examination was sent to all UK neonatal units and members of the British Paediatric Neurology Association. Volunteers were sought for semi-structured interviews. Thematic analysis was used to interpret qualitative data, which was triangulated with quantitative questionnaire data. RESULTS: One hundred ninety-three surveys were returned, 31.0% from neonatologists, 9.3% paediatric neurologist. The median range for confidence was 4 (IQR3-5). Twenty-three interviews occurred. Thematic analysis revealed three themes: "Current culture on neonatal units", " Practicalities of the neurological examination in unwell neonates", and "Changing the culture". Most interviewees did not feel confident performing or interpreting the neurological examination in unwell neonates. Many units had a culture of seeing it as low priority, did not see its relevance in the acute management of unwell neonates. A few interviewees worked in units with a positive culture towards the neurological examination who used adapted standardised examinations and provided training. 72% of questionnaire responders wanted a new standardised neurological examination designed for the unwell neonate, which should be short, utilise pictures like the Hammersmith Neonatal Neurological Examination, contain an assessment of consciousness, be developmentally appropriate and achievable in unwell, ventilated neonates, be accompanied by a schematic to aid interpretation, and for greater training and assessments of competence. CONCLUSIONS: There are barriers preventing paediatricians being able to perform a neurological examination in unwell neonates, and a culture of neurophobia is common. A new standardised examination is needed, alongside aids to interpretation, training, and assessment.

Predicting neurodevelopmental outcomes in fetuses with isolated mild ventriculomegaly.

BACKGROUND: Fetal ventriculomegaly is the the most common intracranial abnormality detected antenatally. When ventriculomegaly is mild and the only, isolated, abnormality detected (isolated mild ventriculomegaly (IMVM)) the prognosis is generally considered to be good. We aim to determine if there are features on in utero MRI (iuMRI) that can identify fetuses with IMVM who have lower risks of abnormal neurodevelopment outcome. METHODS: We studied cases recruited into the MRI to enhance the diagnosis of fetal developmental brain abnormalities in utero (MERIDIAN) study, specifically those with: confirmed IMVM, 3D volume imaging of the fetal brain and neurodevelopmental outcomes at 3 years. We explored the influence of sex of the fetus, laterality of the ventriculomegaly and intracranial compartmental volumes in relation to neurodevelopmental outcome. FINDINGS: Forty-two fetuses met the criteria (33 male and 9 female). There was no obvious correlation between fetal sex and the risk of poor neurodevelopmental outcome. Unilateral IMVM was present in 23 fetuses and bilateral IMVM in 19 fetuses. All fetuses with unilateral IMVM had normal neurodevelopmental outcomes, while only 12/19 with bilateral IMVM had normal neurodevelopmental outcomes. There was no obvious correlation between measure of intracranial volumes and risk of abnormal developmental outcomes. INTERPRETATION: The most important finding is the very high chance of a good neurodevelopmental outcome observed in fetuses with unilateral IMVM, which is a potentially important finding for antenatal counselling. There does not appear to be a link between the volume of the ventricular system or brain volume and the risk of poor neurodevelopmental outcome.

Aetiological investigations in early developmental impairment: are they worth it?

OBJECTIVE: To study the frequency a diagnosis is made in children with early developmental impairment (EDI), and the contribution made to diagnosis by specific investigations. DESIGN: Retrospective case note review. SETTING: Community, neurodisability and neurology department at a UK tertiary centre. PARTICIPANTS: Children referred to determine the aetiology of EDI where a cause was not evident on history and examination. Participants were divided into two groups: EDI and no additional features (EDI-) and EDI with additional features (EDI+). MAIN OUTCOME MEASURES: The frequency a cause was found for the child's EDI and which tests contributed to a diagnosis. RESULTS: 699 participants, 68.8% boys, median age at investigation 2 years 8 months (range 3 months to 11 years 5 months). 61 (8.7%) of participants had no investigations, and children with EDI- were less likely to be investigated (χ2=12.5, p<0.05). A diagnosis was made in 166 children (23.7%) and was more frequent in EDI+ (EDI- 9.9%, EDI+ 27.3%, χ2=19.0; p<0.05). Full blood count, zinc protoporphyrin, renal or liver function, bone profile, biotinidase, creatine kinase or lead level revealed no diagnoses. The following investigations found causes for EDI: MRI (23.1%), microarray (11.5%), Fragile X (0.9%), plasma amino acids (1.2%), urine organic acids (0.9%) and thyroid function tests (0.5%). CONCLUSIONS: The majority of 'screening' investigations for EDI do not contribute to a diagnosis, highlighting an area of cost saving for the NHS and reduced burden for patients and families. We propose a streamlined guideline for the investigation of EDI based on our data.