https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:29133 Wed 07 Jul 2021 12:14:12 AEST ]]> Low dose growth hormone treatment in infants and toddlers with Prader-Willi syndrome is comparable to higher dosage regimens https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30932 WHO) and PWS specific BMI (SDSWHO (− 0.88 vs 0.40) than toddlers, while toddlers had a lower height SDSWHO (− 1.44 vs − 2.09) (both P < 0.05). All increased height SDSWHO (2 year delta height infants + 1.26 SDS, toddlers + 1.21 SDS), but infants normalised height sooner, achieving a height SDS of − 0.56 within 1 year, while toddlers achieved a height SDS of − 0.88 in two years. BMI SDSWHO increased, while BMI SDSPWS decreased (both P < 0.0001) and remained negative. The GHT response did not differ with gestation (preterm 23%) or genetic subtype (deletion vs maternal uniparental disomy). Bone age advancement paralleled chronological age. All children had low serum IGF-I at baseline which increased, but remained within the age-based reference range during GHT (for 81% in first year). Four children had spinal curvature at baseline; two improved, two progressed to a brace and two developed an abnormal curve over the observation period. Mild to severe central and/or obstructive sleep apnoea were observed in 40% of children prior to GHT initiation; 11% commenced GHT on positive airway pressure (PAP), oxygen or both. Eight children ceased GHT due to onset or worsening of sleep apnoea: 2 infants in the first few months and 6 children after 6–24 months. Seven resumed GHT usually after adjusting PAP but five had adenotonsillectomy. One child ceased GHT temporarily due to respiratory illness. No other adverse events were reported. Two children substantially improved their breathing shortly after GHT initiation. Conclusion: Initiation of GHT in infants with 4.5 mg/m²/week was beneficial and comparable in terms of auxological response to a dose of 7 mg/m²/week. Regular monitoring pre and post GH initiation assisted in early detection of adverse events. IGF-I levels increased with the lower dose but not excessively, which may lower potential long-term risks.]]> Thu 27 Jan 2022 15:55:57 AEDT ]]> Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44807 Mon 24 Oct 2022 09:31:54 AEDT ]]> Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:52313 Mon 09 Oct 2023 10:23:33 AEDT ]]> Requirements for improving health and well-being of children with Prader-Willi syndrome and their families https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45712 Fri 04 Nov 2022 10:23:59 AEDT ]]>