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Paper 3
Published in Aalia Khan, Ramsey Jabbour, Almas Rehman, nMRCGP Applied Knowledge Test Study Guide, 2021
Aalia Khan, Ramsey Jabbour, Almas Rehman
Causes of short stature include: family history, constitutional delay of growth and puberty and growth hormone insufficiency. Turner’s syndrome is relatively common with 1 in 2500 female live births being affected. In pre-school years, approximately 25% of affected girls will be of normal height. In addition to a wide carrying angle and webbed neck, inverted widely spaced nipples and multiple pigmented naevi, eustachian tube dysfunction, progressive sensorineural deafness and strabismus are also common. These children have a normal IQ.
Genetics
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Jane A. Hurst, Richard H. Scott
Treatment/Management/Surveillance: Neonate: ECHO, renal ultrasound, audiogram.Childhood: paediatric endocrinology review. Short stature can be partially corrected by administration of growth hormone in childhood.Adolescents/adults: in addition to primary ovarian failure, adults with Turner syndrome are also susceptible to a range of disorders, including osteoporosis, hypothyroidism and renal and gastrointestinal disease. They have a particularly high cardiovascular risk and it is imperative that patients are screened by ECHO, assessed by a cardiologist and advised of the potential risks before attempting to become pregnant by IVF – there is a 2% risk of rupture or dissection of the aorta.
Other Physical Impairments
Published in Elizabeth Broad, Sports Nutrition for Paralympic Athletes, 2019
Short stature generally refers to a group of genetic disorders characterised by shorter than normal skeletal growth caused by one of over 300 conditions. Achondroplasia is the most common cause of short stature, the majority of these individuals having average-sized parents. In achondroplasia, the head is relatively large and the trunk is a relatively normal length; however, the arms and legs are disproportionately short. Short stature may be disproportionate, in that one or more body parts are relatively large or small in comparison to those of an average-sized adult, or proportionate, whereby the body is normally proportioned but unusually small. Athletes with short stature are eligible to compete in athletics, badminton, equestrian, powerlifting, sailing, swimming and table tennis, with height limitations and classification requirements varying between sports.
Multifactorial influences on successful health outcomes for an adolescent with Prader-Willi syndrome: a qualitative case study
Published in Physiotherapy Theory and Practice, 2023
Nicole Campbell, Scott Van Zant, Joyce Lammers
Individuals with PWS may present with an array of symptoms that vary across the lifespan. The most common symptoms from birth through infancy include low birth weight, poor feeding with failure to thrive, and hypotonia (Cassidy, Schwartz, Miller, and Driscoll, 2012). In early childhood, common presentation often includes continued hypotonia, slowed speech development, delayed motor milestones, and cognitive impairments with an average IQ of 60 (Whittington et al., 2004). Short stature is often apparent as a result of growth hormone deficiency, with additional endocrine dysfunction including hypogonadism and hypothyroidism often diagnosed. Hyperphagia often presents as the child ages, with an average onset of 8 years, affecting approximately 84% of individuals with the diagnosis (Butler et al,, 2002). Behavioral problems frequently arise including tantrums, skin picking, and perseveration or compulsions (Angulo, Butler, and Cataletto, 2015; Bohonowych, Miller, McCandless, and Strong, 2019; Whittington et al., 2004).
Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review
Published in Disability and Rehabilitation, 2022
Constantinos Constantinides, Sarah H. Landis, James Jarrett, Jennifer Quinn, Penelope J. Ireland
While ACH is associated with multi-systemic life-long complications, many patients are able to adapt functionally and psychologically. However, the available literature on QoL and physical functionality demonstrate that this population does experience worse outcomes compared to average stature people of similar age. Future research is warranted to better characterize the functional and psychosocial impact of disproportionate short stature as well as to prospectively assess the effects of limb lengthening and other relevant treatments in this patient population. This would require the development and application of validated condition-specific frameworks and tools for measuring meaningful impact in these individuals while taking into account the multi-faceted challenges that they face [61,68–70]. Having a clearer understanding of the impact of disproportionate short stature in patients with ACH will assist individuals, clinicians, families, and society as a whole to identify and implement more efficient and effective strategies, including both medical treatment options and environmental adaptations, to promote greater independence, resilience, and enhancements in quality of life.
Hematological manifestations and complications of Gaucher disease
Published in Expert Review of Hematology, 2021
Shoshana Revel-Vilk, Jeff Szer, Ari Zimran
In children the only GD-specific therapy is ERT as SRT is only approved for adults (a clinical trial of eliglustat for children with GD is ongoing, NCT03485677). Accordingly, the decision after diagnosis is whether to start ERT and if so, at what dose. Asymptomatic patients may be followed safely untreated for many years [49] and all asymptomatic adults were once children. Symptomatic children, including relatively mildly affected patients with significant short stature, should be treated. Treatment with growth hormone is rarely needed for GD growth retardation [50]. The dose may be higher for those with more severe manifestations, i.e. bone pain, MRI evidence of a risk of bone infarction, signs of hypersplenism, etc. Like adults, if there is a poor response to low dose ERT the dose should be increased [48].