The ResearchWorks Podcast Dr Dayna Pool and Dr Ashleigh Thornton

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

Caitlin Gray, Helen Leonard, Kingsley Wong, Sally Reed, Kate Schmidt, Rachel Skoss, Jianghong Li, Alison Salt, Jenny Bourke, Emma J. Glasson

Abstract


Background: Siblings of children with intellectual disability have unique family experiences, varying by type of disability.

Methods: Parents of children with Down syndrome (156) or with Rett syndrome (149) completed questionnaires relating to sibling advantages and disadvantages, experiences of holidays and recreation, and perceived availability of parental time. Qualitative responses were analysed using thematic analysis.

Results: Positive personality traits, an optimistic outlook, enhanced skills, and rich relationships were strong and consistent parental perceptions for siblings in both disability groups. Parents of children with Rett syndrome were more likely to rank themselves lower on time availability, and to report sibling difficulties with social engagement and family holidays.

Conclusions: Parental responses appeared to be influenced by disability type, and reflective of child capabilities. Perceptions of sibling experience should be supplemented by data collected directly from siblings to fully understand their unique perspective, and the ways in which their experiences could be enhanced.

MYTHS AND FACTS ON HIPS IN CHILDREN WITH CEREBRAL PALSY
Reflections on this episode:


Professor Susan Stott is a Professor of paediatric orthopaedic surgery at the University of Auckland, New Zealand and paediatric orthopedic surgeon at Starship Children’s Hospital in New Zealand. 


Professor Stott was the second President of the AusACPDM and was the only New Zealand investigator on the NHMRC Centre for Research Excellence: Australasian Cerebral Palsy Clinical Trials Network hosted at University of Queensland. 


She is the clinical lead of the New Zealand CP register and on the reference group of the newly formed Neurodevelopmental Network, under the auspices of the Paediatric Society of New Zealand. She therefore has the ability to translate key research findings into clinical practice through strong alliances with key stake-holders within the health sector. 

In terms of general citation indices, her work has been cited 1546 times and h index 34. She has received the Gillies medal from the NZ Orthopaedic Assoc. for best paediatric orthopaedic research paper in 1998 and again in 2008. In 2018, she was the AusACPDM Transformative Practice Award Winner and also received the prestigious Presidential Award, New Zealand Orthopaedic Association

Prioritized strategies to improve diagnosis and early management of cerebral palsy for both Māori and non-Māori familiesSian A Williams, Ivana Nakarada-Kordic, Anna H Mackey, Stephen Reay, N Susan Stott
Abstract


Aim: To identify prioritized strategies to support improvements in early health service delivery around the diagnosis and management of cerebral palsy (CP) for both Māori and non-Māori individuals.


Method: Using a participatory approach, health care professionals and the parents of children with CP attended co-design workshops on the topic of early diagnosis and management of CP. Health design researchers facilitated two 'discovery' (sharing experiences and ideas) and two 'prototyping' (solution-focused) workshops in Aotearoa, New Zealand. A Māori health service worker co-facilitated workshops for Māori families.


Results: Between 7 and 13 participants (14 health care professionals, 12 parents of children with CP across all functional levels) attended each workshop. The discovery workshops revealed powerful stories about early experiences and needs within clinician-family communication and service provision. The prototyping workshops revealed priorities around communication, and when, what, and how information is provided to families; recommendations were co-created around what should be prioritized within a resource to aid health care navigation.


Interpretation: There is a critical need for improved communication, support, and guidance, as well as education, for families navigating their child with CP through the health care system. Further input from families and health care professionals partnering together will continue to guide strategies to improve health care service delivery using experiences as a mechanism for change.

Early otitis media puts children at risk for later auditory and language deficits

Abstract


Background: Otitis media is a common disorder of early childhood suspected of hindering auditory and language development, but evidence regarding these effects has been contradictory. To examine potential sources of these contradictory past results and explore in more detail the effects of early otitis media on auditory and language development, three specific hypotheses were tested: (1) Variability in children's general attention could influence results, especially for measures of auditory functioning, leading to spurious findings of group differences; (2) Different language skills may be differentially affected, evoking different effects across studies depending on skills assessed; and (3) Different mechanisms might account for the effects of otitis media on acquisition of different language skills, a finding that would affect treatment choices.


Method: Children 5-10 years old participated: 49 with and 68 without significant histories of otitis media. The auditory function examined was temporal modulation detection, using games designed to maintain children's attention; two additional measures assessed that attention. Measures of lexical knowledge and phonological sensitivity served as the language measures.

Results: Sustained attention was demonstrated equally across groups of children with and without histories of otitis media. Children with histories of otitis media performed more poorly than peers without those histories on the auditory measure and on both sets of language measures, but effects were stronger for phonological sensitivity than lexical knowledge. Deficits in temporal modulation detection accounted for variability in phonological sensitivity, but not in lexical knowledge.

Conclusion: When experimental factors are tightly controlled, evidence emerges showing effects of otitis media early in life on both auditory and language development. Mechanism of effects on language acquisition appear to involve both delayed auditory development and diminished access to the ambient language.

Keywords: Children; Language; Otitis media; Temporal processing.

A family-tailored early motor intervention (EMI-Heart) for infants with complex congenital heart disease: study protocol for a feasibility RCT

Elena Mitteregger, Tineke Dirks, Manuela Theiler, Oliver Kretschmar, Beatrice Latal

Abstract


Background: Children with congenital heart disease (CHD) undergoing open-heart surgery are at risk for developmental impairments with motor delay manifesting first and contributing to parental concerns. Only a few interventional studies aim to improve neuromotor development in infants with CHD with inconclusive results. We thus developed a family-tailored early motor intervention (EMI-Heart), which aims to promote motor development and family well-being in the first year of life after open-heart surgery. The primary aim described in this protocol is to evaluate feasibility of EMI-Heart. The secondary aim is to describe the difference between the intervention and control group in motor outcomes and family well-being at baseline, post-treatment, and follow-up.


Methods: This prospective, parallel single-center feasibility randomized controlled trial (RCT) will compare EMI-Heart with standard of care in infants with complex CHD. Sixteen infants and their families, randomly allocated to EMI-Heart or the control group, will participate within the first 5 months of life. Infants assigned to EMI-Heart will receive early motor intervention for 3 months. The intervention's key is to promote infants' postural control to enhance motor development and partnering with parents to encourage family well-being. Feasibility outcomes will be (a) clinical recruitment rate and percentage of families completing EMI-Heart, (b) average duration and number of sessions, and (c) acceptability of EMI-Heart using a parental questionnaire post-treatment, and descriptive acceptability of EMI-Heart to the pediatric physiotherapist. Secondary outcomes of the intervention and control group will be infants' motor outcomes and questionnaires assessing family well-being at 3-5 months (baseline), at 6-8 months (post-treatment), and at 12 months of age (follow-up). We will evaluate feasibility using descriptive statistics. Non-parametric statistical analysis of secondary outcomes will assess differences between the groups at baseline, post-treatment, and follow-up.


Discussion: This feasibility RCT will provide information about a newly developed family-tailored early motor intervention in infants with complex CHD. The RCT design will provide a foundation for a future large-scale interventional trial for infants with CHD after open-heart surgery.


Keywords: Congenital heart disease; Early motor intervention; Family well-being; Family-tailored intervention; Neuromotor development; Open-heart surgery; Parental and child health-related quality of life; Physiotherapy.

EMERGENCE OF THE CORTICAL ENCODING OF PHONETIC FEATURES IN THE FIRST YEAR OF LIFE
Giovanni M. Di Liberto, Adam Attaheri, Giorgia Cantisani, Richard B. Reilly, Áine Ní Choisdealbha, Sinead Rocha, Perrine Brusini & Usha Goswami   
Nature Communications volume 14, Article number: 7789 (2023)   

Abstract  

Even prior to producing their first words, infants are developing a sophisticated speech processing system, with robust word recognition present by 4–6 months of age.   


These emergent linguistic skills, observed with behavioural investigations, are likely to rely on increasingly sophisticated neural underpinnings. The infant brain is known to robustly track the speech envelope, however previous cortical tracking studies were unable to demonstrate the presence of phonetic feature encoding.  


Here we utilise temporal response functions computed from electrophysiological responses to nursery rhymes to investigate the cortical encoding of phonetic features in a longitudinal cohort of infants when aged 4, 7 and 11 months, as well as adults.   


The analyses reveal an increasingly detailed and acoustically invariant phonetic encoding emerging over the first year of life, providing neurophysiological evidence that the pre-verbal human cortex learns phonetic categories. By contrast, we found no credible evidence for age-related increases in cortical tracking of the acoustic spectrogram.