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Medical Care of the Child with Down Syndrome
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
In addition to congenital hypothyroidism, 14–20% of individuals with DS develop hypothyroidism. Usually, this has an autoimmune origin. In addition, hyperthyroidism also occurs in this population, though less frequently. Juvenile diabetes mellitus has also been reported.
Micronutrients in Prevention and Improvement of the Standard Therapy in Diabetes
Published in Kedar N. Prasad, Micronutrients in Health and Disease, 2019
Type 1 diabetes was previously called insulin-dependent diabetes mellitus, or juvenile-onset diabetes. This form of diabetes develops when the body’s immune system destroys pancreatic beta cells that are responsible for synthesizing and releasing insulin, which regulates blood levels of glucose. The type 1 diabetes primarily affects children and young adults, although onset of disease can occur at any age. In adults, type 1 diabetes accounts for 5%–10% of all diagnosed cases of diabetes.1 Risk factors for type 1 diabetes include autoimmune disease and genetic or environmental factors.
Muscular dystrophy and arthritis
Published in Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize, Developmental and Adapted Physical Education, 2019
Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize
Juvenile idiopathic arthritis is characterized by major changes in the joints, muscle and tissue tightening including inflammation, contractures, and joint damage, all of which can affect mobility, strength, and endurance. Children may come to school with varying degrees of pain and stiffness or miss school entirely (Arthritis Foundation, 2017). Nearly all children with arthritis experience periods when symptoms reduce in severity or disappear, although they may go quickly from being symptom free to experiencing extreme pain and swelling. When the child is symptom free, or even relatively symptom free, the child should be encouraged to participate in most, if not all, developmentally appropriate physical activities. Developmental appropriateness is emphasized because many children with serious and prolonged involvement are smaller and less physically mature than their typically developing chronological age (CA) peers are. Splinting is occasionally the procedure of choice when the purpose is to rest tender joints or prevent or minimize contractures. Typically, removable casts may be used at night or for periods during the day. For example, a wrist splint worn during the day may permit active finger use while protecting the painful and possibly malformed wrist from unnecessary trauma.
Pilates-based exercises for gait and balance in ambulant children with cerebral palsy: feasibility and clinical outcomes of a randomised controlled trial
Published in Disability and Rehabilitation, 2023
Clodagh Coman, Dara Meldrum, Damien Kiernan, Ailish Malone
Although the evidence base for Pilates in children is less developed compared to adults, studies indicate that Pilates-based exercise is feasible and safe in children and adolescents and can improve outcomes [13]. To engage with Pilates-based exercise, children need to focus on specific instructions about trunk and pelvic movement, have some internal awareness of their trunk posture and approximately grade 2 abdominal and trunk muscle strength to initiate the movements required. A recent systematic review found 11 randomized controlled trials (RCTs) of Pilates as an intervention for children and young people aged eight to 22 years, targeting diverse conditions including Adolescent Idiopathic Scoliosis, Diabetes Mellitus and Juvenile Idiopathic Arthritis [13]. Pilates was effective for outcomes such as isometric strength, hamstring flexibility and dynamic postural control, but it has not yet been tested in CP.
Identifying the response process validity of clinical vignette-type multiple choice questions: An eye-tracking study
Published in Medical Teacher, 2023
Francisco Carlos Specian Junior, Thiago Martins Santos, John Sandars, Eliana Martorano Amaral, Dario Cecilio-Fernandes
Boy, three-year-old, was brought to the Emergency Room with pain in the right lower limb and difficulty in walking for one day. Family history: brother with an upper respiratory tract infection for 10 days. Physical examination: T = 36.8 °C; RR = 16 breaths per minute; HR = 90 beats per minute; Limbs: limitation of internal and external rotation of the right hip; does not perform complete extension of the right lower limb. The most likely diagnosis is:Rheumatic fever.Legg-Calve-Perthes disease.Transient synovitis.Juvenile idiopathic arthritis.
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2023
Yousef Daneshmandpour, Zahra Bahmanpour, Somayeh Kazeminasab, Ehsan Aghaei Moghadam, Elham Alehabib, Marjan Chapi, Abbas Tafakhori, Negar Aghaei, Hossein Darvish, Babak Emamalizadeh
In the current study, a novel mutation in the ALS2 in an Iranian Kurdish family with ALS was detected. The symptoms of the patient are correlated with the juvenile form of ALS. As reviewed by Flor-de-Lima et al., the main symptoms of JALS are both lower and upper motor neuron system involvement resulting in loss of walking and speech problems (1). The study of Topp et al. showed ALSIN is mainly a cytosolic protein, but it is also observed in membrane transport events. Also, they found that the VPS9 domain has Rab5 guanine nucleotide exchange activity, and the ALSIN acts as a guanine nucleotide exchange factor for Rac1 (3). ALS2 is correlated with three different neurologic disorders including infantile ascending hereditary spastic paraplegia (IAHSP), juvenile primary lateral sclerosis (JPLS), and juvenile amyotrophic lateral sclerosis (JALS). The exact etiology behind the correlation between ALS2 mutations and three specific conditions is still ambiguous. Also, no genotype-phenotype correlation has been concluded yet (1,4).