ORCID Profile
0000-0001-9971-7084
Current Organisations
Queensland Children’s Hospital
,
University of Queensland
,
Royal Australasian College of Physicians
,
Mater Young Adult and Adolescent Service
,
Logan Hospital
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Publications
Scans propagating exponential workload (SPEW)
Publisher: Wiley
Date: 10-03-2021
DOI: 10.1111/JPC.15418
Requirements for improving health and well-being of children with Prader-Willi syndrome and their families
Publisher: Wiley
Date: 30-06-2019
DOI: 10.1111/JPC.14546
55th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Paris, France, September 10-12, 2016: Abstracts
Publisher: S. Karger AG
Date: 2016
DOI: 10.1159/000449142
Challenges of managing congenital hyperinsulinism in remote Aboriginal Australian communities
Publisher: Wiley
Date: 18-08-2020
DOI: 10.1111/JPC.14984
Dysregulated glucose homeostasis in congenital central hypoventilation syndrome
Publisher: Walter de Gruyter GmbH
Date: 19-12-2018
Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic control. A hypoglycaemic seizure in a 4-year-old girl with CCHS led to a more detailed examination of glycaemic control in a cohort of children with CCHS. We conducted an observational cohort study of glucose homeostasis in seven children (3 months to 12 years) with genetically confirmed CCHS using a combination of continuous glucose monitoring (CGM), fasting studies and oral glucose tolerance test (OGTT). CGM was used to compare the effect of diazoxide and dietary intervention in the index patient. Hypoglycaemia was not elicited by fasting in any of the patients. Increased postprandial glycaemic variability was evident in all patients using CGM, with seven of seven patients demonstrating initial postprandial hyperglycaemia (plasma-glucose concentration .8 mmol/L), followed by asymptomatic hypoglycaemia (plasma-glucose concentration ≤2.8 mmol/L) in two of seven patients that was also demonstrated on OGTT. Both diazoxide and low Glycaemic Index (GI) dietary intervention reduced the proportion of CGM readings mmol/L however, diazoxide also increased the proportion of readings in the hyperglycaemic range. Glucose variability associated with autonomic dysfunction may be unrecognised in CCHS, particularly in children with more severe phenotypes. This report highlights the occurrence of hyperglycaemia as well as hypoglycaemia in CCHS. Given the challenges of recognising hypoglycaemia based on clinical symptomatology, the use of CGM may facilitate its identification allowing appropriate management. The observed normoglycaemia during fasting combined with increased postprandial plasma blood glucose level (BGL) variability is more consistent with dumping syndrome than persistent hyperinsulinism. Dietary modifications therefore may be more effective than diazoxide in managing hypoglycaemia.
Scans propagating exponential workload (SPEW).
Publisher: Wiley
Date: 2022
DOI: 10.1111/JPC.1_15418
CHANGES TO THYROID FUNCTION (TF) FOLLOWING GROWTH HORMONE (GH) THERAPY IN CHILDREN WITH PRADER‐WILLI SYNDROME (PWS)
Publisher: Wiley
Date: 05-2019
DOI: 10.1111/JPC.14465_3
Lessons learnt in the management of hypercalcaemia secondary to subcutaneous fat necrosis of the newborn
Publisher: Wiley
Date: 11-08-2020
DOI: 10.1111/JPC.15093
Proinsulin‐specific T‐cell responses correlate with estimated c‐peptide and predict partial remission duration in type 1 diabetes
Publisher: Wiley
Date: 2021
DOI: 10.1002/CTI2.1315
Abstract: Type 1 diabetes (T1D) is an autoimmune disorder in which autoreactive T cells destroy insulin‐producing β‐cells. Interventions that preserve β‐cell function represent a fundamental therapeutic goal in T1D and biomarkers that predict and monitor β‐cell function, and changes in islet autoantigenic signatures are needed. As proinsulin and neoantigens derived from proinsulin peptides (hybrid insulin peptides, HIPs) are important T1D autoantigens, we analysed peripheral blood CD4 + T‐cell autoantigen‐specific proliferative responses and their relationship to estimated β‐cell function. We recruited 72 people with and 42 without T1D, including 17 pre‐diabetic islet antibody‐positive and 9 antibody‐negative first‐degree relatives and 16 unrelated healthy controls with T1D‐risk HLA types. We estimated C‐peptide level at 3‐month intervals for 2 years post‐diagnosis and measured CD4 + T‐cell proliferation to proinsulin epitopes and HIPs using an optimised bioassay. We show that CD4 + T‐cell proliferation to any islet peptide and to multiple epitopes were significantly more frequent in pre‐diabetic islet antibody‐positive siblings and participants with T1D ≤ 3 months of duration, than in participants with T1D 3 months or healthy controls. Among participants with T1D and first‐degree relatives, CD4 + T‐cell proliferation occurred most frequently in response to proinsulin 33‐63 (full‐length C‐peptide). Proinsulin 33‐63 ‐specific responses were associated with HLA‐DR3‐DQ2 and/or HLA‐DR4/DQ8 . In children with T1D, proinsulin 33‐63 ‐specific T‐cell proliferation positively associated with concurrent estimated C‐peptide and predicted survival in honeymoon. CD4 + T‐cell proliferative responses to proinsulin‐containing autoantigens are common before and immediately after diagnosis of T1D but decline thereafter. Proinsulin 33‐63 ‐specific CD4 + T‐cell response is a novel marker of estimated residual endogenous β‐cell function and predicts a better 2‐year disease outcome.
54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Barcelona, Spain, October 1-3, 2015: Abstracts
Publisher: S. Karger AG
Date: 22-09-2015
DOI: 10.1159/000437032
Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome
Publisher: Springer Science and Business Media LLC
Date: 22-03-2022
DOI: 10.1007/S00431-022-04439-2
Abstract: In iduals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep. Caregivers of in iduals with PWS (aged 3 to 25 years) completed the Pediatric Sleep Questionnaire (PSQ), Epworth Sleepiness Scale for Children and Adolescents (ESS-CHAD), and the parent version of the Developmental Behavior Checklist (DBC-P). Sleep adequacy was adjusted for age by computing sleep duration against age-specific recommendations. The associations between ESS-CHAD and the total DBC and its subscale scores were evaluated by linear regression, adjusted for sleep-related breathing difficulties, sleep adequacy, and body mass index (BMI). There were 54 responses for in iduals with PWS (including 22 males) aged 4.4–24.0 (mean 12.5) years. Daytime sleepiness predicted a substantial proportion of the variance in total DBC-P scores in the unadjusted model (28% β = 0.028 p 0.001) and when adjusted for sleep adequacy, BMI, and sleep-related breathing difficulties (29% β = 0.023 p = 0.007). This relationship was not moderated by BMI Z -scores, but the relationship was more prominent for children younger than 12 years than for children older than 12 years. Conclusions : These findings provide preliminary novel evidence that daytime sleepiness may drive the expression of emotional/behavioral disturbances, and should be explored as a potential modifiable risk factor for these disturbances in PWS, particularly pre-adolescent children. What is Known: • In iduals with Prader-Willi syndrome (PWS) commonly experience excessive daytime sleepiness and exhibit emotional/behavioral disturbances. • In the typically developing population, sleepiness is associated with emotional/behavioral disturbances, independently of sleep-disordered breathing. . What is New: • This study found evidence for a direct link between daytime sleepiness and emotional/behavioral disturbances, independent of sleep-related breathing difficulties, sleep adequacy, and body mass index. • Excessive daytime sleepiness may be a modifiable risk factor for emotional/behavioral disturbances in PWS.
Impact of a Behavioral Sleep Intervention on New School Entrants' Social Emotional Functioning and Sleep: A Translational Randomized Trial.
Publisher: Informa UK Limited
Date: 14-05-2018
Optimization of a Method to Detect Autoantigen-Specific T-Cell Responses in Type 1 Diabetes
Publisher: Frontiers Media SA
Date: 07-12-2020
DOI: 10.3389/FIMMU.2020.587469
Abstract: The development of tolerizing therapies aiming to inactivate autoreactive effector T-cells is a promising therapeutic approach to control undesired autoimmune responses in human diseases such as Type 1 Diabetes (T1D). A critical issue is a lack of sensitive and reproducible methods to analyze antigen-specific T-cell responses, despite various attempts. We refined a proliferation assay using the fluorescent dye 5,6-carboxylfluorescein diacetate succinimidyl ester (CFSE) to detect responding T-cells, highlighting the fundamental issues to be taken into consideration to monitor antigen-specific responses in patients with T1D. The critical elements that maximize detection of antigen-specific responses in T1D are reduction of blood storage time, standardization of gating parameters, titration of CFSE concentration, selecting the optimal CFSE staining duration and the duration of T-cell stimulation, and freezing in medium containing human serum. Optimization of these elements enables robust, reproducible application to longitudinal cohort studies or clinical trial s les in which antigen-specific T-cell responses are relevant, and adaptation to other autoimmune diseases.
ISPAD Annual Conference 2015 Highlights
Publisher: Hindawi Limited
Date: 05-01-2016
DOI: 10.1111/PEDI.12355
Hypophosphataemic rickets: The long and short of it
Publisher: Wiley
Date: 24-11-2020
DOI: 10.1111/JPC.15277
Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy
Publisher: Wiley
Date: 16-08-2022
DOI: 10.1111/JPC.15691
Abstract: In children with Prader‐Willi syndrome (PWS), growth hormone (GH) improves height and body composition however, may be associated with worsening sleep‐disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow‐up with polysomnography is still advised in most clinical guidelines. This retrospective, multicentre study, included children with PWS treated with GH at seven PWS treatment centres in Australia over the last 18 years. A paired analysis comparing polysomnographic measures of central and obstructive SDB in the same child, before and after GH initiation was performed with Wilcoxon signed‐rank test. The proportion of children who developed moderate/severe obstructive sleep apnoea (OSA) was calculated with their binomial confidence intervals. We included 112 patients with available paired data. The median age at start of GH was 1.9 years (range 0.1–13.5 years). Median obstructive apnoea hypopnoea index (AHI) at baseline was 0.43/h (range 0–32.9) 35% had an obstructive AHI above 1.0/h. Follow‐up polysomnography within 2 years after the start of GH was available in 94 children who did not receive OSA treatment. After GH initiation, there was no change in central AHI. The median obstructive AHI did not increase significantly ( P = 0.13), but 12 children (13%, CI 95% 7–21%) developed moderate/severe OSA, with clinical management implications. Our findings of a worsening of OSA severity in 13% of children with PWS support current advice to perform polysomnography after GH initiation. Early identification of worsening OSA may prevent severe sequelae in a subgroup of children.
Related Organisations
Related Funding Activities
No related grants have been discovered for Yassmin Musthaffa.