Paediatric developmental perspectives, longitudinal research and NDD

1. Paediatric developmental perspectives, longitudinal research and NDD Michael O’ Callaghan

2. Longitudinal research • Longitudinal research and Paediatric practice have similarities in methodology and both involve a developmental perspective. • Longitudinal research used to study the enigma of neurodevelopemental disorders and provide FRACP trainees with an experience of research.

3. Paediatrics and Public Health: similar models- different focus Apley and MacKeith‘to think and act in ways which consider the child totally involves an understanding of many things about him, his family and larger environment’ Public Health Model: (i) culture and gov. policies (ii) neighbourhoods and school (iii) family and friends (iv) child (person) (v) child (biology)

4. Paediatric practice and longitudinal research • Both involve time, a developmental perspective and focus on longer term outcome • Clinical problems AND research problems • Examination/ investigations AND research methodology • Diagnosis/outcomes AND Results

5. Clinical and research critiques • DNA’s v’s attrition. • Clinical conclusions: Hippocratic aphorism ‘experience fallacious and judgement difficult’ or Maimonides ‘grant me the strength time and opportunity always to correct what I have acquired.’ • Research conclusions. Are they important, valid and generalizable • Risk of knowledge being out of date : Einstein. • Ancient paradox : ‘one thing is certain, that is nothing is certain. If this statement is true, then it is also false.’

6. A developmental perspective • Change and growth- embryo to adult • All domains--physical, social, emotional, motor, speech-language, intellectual, learning • Sensitive/ critical periods, stages & transitions, dynamic interactions. • Developmental trajectories: genes↔environ • Metaphors: Wadsworth; Wordsworth or Bronowski and Kagan; Yeates and Nietzche

7. Are child development theories important for understanding NDD • NATURE. • Rousseau 1760 • Freud and Erickson • Gesell • Piaget • Bowlby • NURTURE • Locke 1690 • Learning theories • Bandura 1960’s • Bronfenbrenner ‘70’s • Vgotsky

8. What are the NDD • Mild Intellectual impairment • Learning (general and specific difficulties) • Motor Developmental coordination disorder • Speech and Language • ADHD and Executive functions • Autistic spectrum disorders

9. NDD- Current issues • Phenominologically defined (DSM 5) • Heterogeneous with respect to etiology & clinical presentation • Multifinality and equifinality • Dimensional and categorical • Co-morbidity common with other NDD • How do traits become an impairment • Search for endophenotypes

10. Current biological research methodologies for the NDD include: • Improved epidemiological studies • MRI- structure / volume/ DTI and the ‘connecton’ / fMRI/ spectroscopy and molecules. • Genes – GWAS/ rare CNV / ‘jumping genes’/ known genetic disorders • Gene-environment interactions: Epigenetics, promotor mutations and chance • Other: mirror neurones, timing of brain electrical signalling, inflammation-autoimmunity, toxins, computer models

11. Mater-University of Queensland Study of Pregnancy • Acknowledgement of Investigators • 8556 mothers at first pregnancy visit 1981-4 with 99% enrolment • Birth cohort of 7223 singleton infants • Follow-up at 6 months, 5,14 , 21, and 27 yrs (mothers) and currently young adults at 30 yrs.

12. Acquiring a research perspective is important for FRACP trainees • knowledge, skills and attitudes can be taught • discerning what is not known, how new knowledge is generated, its limitations, and how it ‘fits in’ • involvement in Research presentations, networks and advocacy • experience of struggle, interaction and clarification

13. MUSP- Examples of topics addressed by FRACP trainees • SGA and adolescent learning & Attention • Speech problems at 5 yrs and 21 year outcomes • Infant dysregulation at 6 months and 5, 14, &21 yr mental health outcomes • Sleep problems at 5 &14 years and education at 14 and 21 years • Breast feeding and IQ at 5, 14 and 21 years.

14. High Risk Infants • Growth and Development Clinic for Clinical Audit and Research. Acknowledgements • High Risk cohorts (i) ELBW and VPT (ii) SGA (iii) term encephalopathy (iv) other pregnancy or peri-natal cohorts. • Specific Risks- Genes and syndromes; pregnancy exposures; perinatal factors; etc • Social risk • Prediction and Risk

15. High Risk Cohorts- Examples of issues addressed by FRACP trainees • Head growth (HC) and later learning/ADHD. • Perinatal and pregnancy factors and patterns of disability at 2-4 years • Child neglect and childhood IQ • Early motor signs (4 months) and later ADHD • SGA behaviour dysregulation at 4 months

16. Other studies on NDD include: MUSP G&D-high risk infants Executive function ADHD IQ at 2 and 4 years School outcomes Motor function /prediction Patterns of growth on development Examination of tests • Smoking in pregnancy • Alcohol in pregnancy • Antenatal, pregnancy and peri-natal problems • Short stature and growth • Physical activity • Poverty • Maternal mental health

17. Conclusions • Paediatricians are longitudinal researchers. • Paediatricians are all developmental Paediatricians • NDD remain a challenge. Will hope trump hubris? • Longitudinal cohort studies facilitate an increased understanding of NDD and FRACP training in research. • Ongoing population studies such as MUSP are a wonderful research resource now and in future.

18. Maimonides • Jonathan Sacks : ‘Science takes things apart, religion puts them together again.’ • Paediatricians also- in a different sense- ‘ take things apart and put them together again’ and share with Maimonides his “ lofty aim of doing good to Thy children”.