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Growth Hormone & IGF Research :... 2021We sought to obtain a better understanding of the burden of short stature using a systematic literature review.
OBJECTIVE
We sought to obtain a better understanding of the burden of short stature using a systematic literature review.
METHODS
Studies of the burden of short stature, of any cause in adults and children, were searched using Embase, MEDLINE and Cochrane databases in April 2020, capturing publications from 2008 onwards. Case series and populations with adult-onset growth hormone deficiency (GHD) were excluded.
RESULTS
Of 1684 publications identified, 41 studies (33 in children, 8 in adults) were included. All studies assessed human burden. Most study populations in children included short stature due to GHD, idiopathic short stature (ISS) and short stature after being born small for gestational age (SGA). In these populations, four studies showed that quality of life (QoL) in children with short stature was significantly worse than in children with normal stature. A significant association between QoL and short stature was observed in children with chronic kidney disease (CKD) (3 studies), achondroplasia (1 study) and transfusion-dependent β-thalassaemia (1 study), and in samples with mixed causes of short stature (3 studies). Three studies (one in GHD/ISS/SGA and two in CKD) found no significant association between short stature and QoL, and several studies did not report statistical significance. Approximately half of adult studies showed that QoL was reduced with short stature, and the other half showed no association. Two studies, one in adults with Prader-Willi syndrome and one in children with GHD, suggested a potential association between short stature and poorer cognitive outcomes. Three studies demonstrated an increased caregiver burden in parents of children with short stature.
CONCLUSIONS
Evidence suggests that, compared with those with normal stature, children and adults with short stature of any cause may experience poorer QoL. Further research could extend our understanding of the human burden in this field.
Topics: Achondroplasia; Adult; Body Height; Caregiver Burden; Child; Cost of Illness; Growth Disorders; Human Growth Hormone; Humans; Infant, Small for Gestational Age; Parents; Quality of Life; Renal Insufficiency, Chronic; beta-Thalassemia
PubMed: 33975197
DOI: 10.1016/j.ghir.2021.101392 -
Research in Developmental Disabilities 2010Skin-picking is a type of self-injurious behavior involving the pulling, scratching, lancing, digging, or gouging of one's own body. It is associated with social... (Review)
Review
Skin-picking is a type of self-injurious behavior involving the pulling, scratching, lancing, digging, or gouging of one's own body. It is associated with social impairment, and increased medical and mental health concerns. While there are several reports showing that skin-picking is common in individuals with developmental disabilities, knowledge about effective treatment approaches is sparse. We therefore reviewed studies involving the treatment of chronic skin-picking in individuals with developmental disabilities. Systematic searches of electronic databases, journals, and reference lists identified 16 studies meeting the inclusion criteria. These studies were evaluated in terms of: (a) participants, (b) functional assessment procedures and results, (c) intervention procedures, (d) results of the intervention, and (e) certainty of evidence. Across the 16 studies, intervention was provided to a total of 19 participants aged 6-42 years. Functional assessment procedures included direct observations, analog functional analyses, and functional assessment interviews. The most commonly identified function was automatic reinforcement. Treatment approaches included combinations of differential reinforcement, providing preferred items and activities stimuli (e.g., toys), wearing protective clothing (e.g., helmets or gloves), response interruption and redirection, punishment, and extinction. Improvements in behavior were reported in all of the reviewed studies. Suggestions for future intervention research are offered.
Topics: Autistic Disorder; Behavior Therapy; Child; Chronic Disease; Developmental Disabilities; Humans; Prader-Willi Syndrome; Self Mutilation; Skin
PubMed: 19963341
DOI: 10.1016/j.ridd.2009.10.017 -
Child's Nervous System : ChNS :... May 2022We report a case and a literature review of delayed postoperative cervical spinal cord injury after thoraco-lumbar spine surgery.
INTRODUCTION
We report a case and a literature review of delayed postoperative cervical spinal cord injury after thoraco-lumbar spine surgery.
CASE REPORT
A 13-year-old Prader-Willi Syndrome female was treated by a T3-L5 posterior spine fusion for progressive scoliosis. Intraoperative neuromonitoring and immediate postoperative neurological examination were normal. Sixty hours after surgery, she developed a tetraplegia. The immediate MRI and CT scan of the spine were negative. Two days after, a new MRI revealed an ischemic cervical lesion at the level C5-C6. After 1 week, she gradually improved breathing and motility/sensibility at the extremities. After 4 months of intensive neurologic rehabilitation, the patient improved to ASIA grade D and was discharged. At 1-year follow, the neurologic recovery was nearly completed.
METHODS
We performed a systematic review of the literature through PubMed and Embase database focused on delayed postoperative cervical spinal cord lesion after a thoraco-lumbar fusion for spinal deformity.
RESULTS
Only 14 cases of neurological injuries at levels above the site of surgery have been previously reported and never in Prader Willy Syndrome. All patients were adolescent and 86,7% were females but no specific risk factors were found.
CONCLUSIONS
Delayed postoperative neurological deficit far from the surgical site can be considered a specific subgroup of these rare complication that can occur several hours after spine surgery, regardless of intraoperative complication. Despite the rarity of this complication, clinicians should be aware of it. Perioperative optimization of spinal cord perfusion and close neurological examination in first postoperative days may be helpful to quickly recognize and treat this complication.
Topics: Adolescent; Cervical Cord; Female; Humans; Male; Postoperative Period; Scoliosis; Spinal Cord Diseases; Spinal Fusion
PubMed: 34559301
DOI: 10.1007/s00381-021-05336-z -
World Journal of Pediatrics : WJP Feb 2019Bone remodeling is a lifelong process due to the balanced activity of osteoclasts (OCs), the bone-reabsorbing cells, and osteoblasts (OBs), and the bone-forming cells....
BACKGROUND
Bone remodeling is a lifelong process due to the balanced activity of osteoclasts (OCs), the bone-reabsorbing cells, and osteoblasts (OBs), and the bone-forming cells. This equilibrium is regulated by numerous cytokines, but it has been largely demonstrated that the RANK/RANKL/osteoprotegerin and Wnt/β-catenin pathways play a key role in the control of osteoclastogenesis and osteoblastogenesis, respectively. The pro-osteoblastogenic activity of the Wnt/β-catenin can be inhibited by sclerostin and Dickkopf-1 (DKK-1). RANKL, sclerostin and DKKs-1 are often up-regulated in bone diseases, and they are the target of new monoclonal antibodies.
DATA SOURCES
The authors performed a systematic literature search in PubMed and EMBASE to June 2018, reviewed and selected articles, based on pre-determined selection criteria.
RESULTS
We re-evaluated the role of RANKL, osteoprotegerin, sclerostin and DKK-1 in altered bone remodeling associated with some inherited and acquired pediatric diseases, such as type 1 diabetes mellitus (T1DM), alkaptonuria (AKU), hemophilia A, osteogenesis imperfecta (OI), 21-hydroxylase deficiency (21OH-D) and Prader-Willi syndrome (PWS). To do so, we considered recent clinical studies done on pediatric patients in which the roles of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways have been investigated, and for which innovative therapies for the treatment of osteopenia/osteoporosis are being developed.
CONCLUSIONS
The case studies taken into account for this review demonstrated that quite frequently both bone reabsorbing and bone deposition are impaired in pediatric diseases. Furthermore, for some of them, bone damage began in childhood but only manifested with age. The use of denosumab could represent a valid alternative therapeutic approach to improve bone health in children, although further studies need to be carried out.
Topics: Adrenal Hyperplasia, Congenital; Alkaptonuria; Biomarkers; Bone Remodeling; Bone Resorption; Child; Diabetes Mellitus, Type 1; Hemophilia A; Humans; Intercellular Signaling Peptides and Proteins; Osteogenesis Imperfecta; Osteoprotegerin; Prader-Willi Syndrome; RANK Ligand; Up-Regulation; Wnt Signaling Pathway
PubMed: 30343446
DOI: 10.1007/s12519-018-0198-7