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obesity --- metabolism --- reproduction --- diabetes --- inherited metabolic diseases --- endocrinology --- Endocrine System Diseases --- Endocrinology --- Metabolism --- Metabolic Diseases --- Anabolism --- Catabolism --- Metabolism, Primary --- Primary metabolism --- Biochemistry --- Physiology --- Internal medicine --- Hormones --- Diseases, Metabolic --- Thesaurismosis --- Disease, Metabolic --- Metabolic Disease --- Thesaurismoses --- Metabolic Phenomenon --- Metabolic Process --- Metabolism Concepts --- Metabolism Phenomena --- Process, Metabolic --- Processes, Metabolic --- Metabolic Concepts --- Metabolic Phenomena --- Metabolic Processes --- Concept, Metabolic --- Concept, Metabolism --- Concepts, Metabolic --- Concepts, Metabolism --- Metabolic Concept --- Metabolism Concept --- Phenomena, Metabolic --- Phenomena, Metabolism --- Phenomenon, Metabolic --- Endocrinology and Metabolism Specialty --- Metabolism and Endocrinology Specialty --- Diseases of Endocrine System --- Endocrine Diseases --- Disease, Endocrine --- Disease, Endocrine System --- Diseases, Endocrine --- Diseases, Endocrine System --- Endocrine Disease --- Endocrine System Disease --- System Disease, Endocrine --- System Diseases, Endocrine

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Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.

Medicine --- retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader–Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- n/a --- Prader-Willi syndrome

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This Special Issue of the journal Children constitutes an opportune moment to reflect on the psychosocial needs of children living with rare diseases and of their families. As medical advances, treatments, and developments have enabled many of these children to survive infancy and to live into adulthood, progress brings with it concerns and opportunities to enhance the psychosocial quality of life of children living with rare diseases, and of their families. This Special Issue reflects the current state of psychosocial research, which is primarily qualitative in nature. There are no scientifically rigorous randomized clinical trials to create an evidence base of effective psychosocial interventions for the provision of care to children with rare diseases and to their families; nevertheless, the papers within this Special Issue provide a reflection on the state of the science, including ideas about future research and practice. In this next section we share observations about the contributions made by each of the 13 articles, which cover a diverse range of topics.

Psychology --- cancer --- childhood cancer --- adaptation --- psychological --- neoplasm --- oncology --- sibling --- social support --- social adjustment --- palliative care --- end-of-life care --- equity --- public health approach --- compassionate communities --- caregiving --- parents --- psychosocial support --- rare disease --- advance care planning --- decision-making --- family caregiver --- psychosocial care --- communication --- pediatric --- adolescents and young adults --- healthcare needs --- chronic illness --- AYA transition --- Beckwith–Wiedemann syndrome --- emotional-behavioral problems --- psychosocial difficulties --- psychomotor development --- preschool-age children --- pediatric chronic illness --- rare diseases --- family caregivers --- gender differences --- genetic or rare diseases --- health outcomes --- illness perception --- parenting stress --- siblings --- bereavement --- emotions --- psychosocial distress --- pediatrics --- complex chronic conditions --- pediatric to adult transition --- special needs --- interventions --- care coordination --- transition readiness --- family burden --- parental need --- urea cycle disorders --- E-IMD --- inherited metabolic diseases --- medullary thyroid carcinoma --- psychosocial --- young adults --- life-limiting conditions --- adolescents --- age-appropriate --- development --- cognitive functions --- children --- families --- medical complexity --- policy --- advocacy --- n/a --- Beckwith-Wiedemann syndrome

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Health --- Nutrition --- Health. --- Nutrition. --- Nutrition disorders --- Nutritionally induced diseases --- Research --- Nutritional Physiological Phenomena. --- Alimentation --- Food --- Personal health --- Wellness --- Nutrition Phenomena --- Nutrition Physiological Concepts --- Nutrition Physiological Phenomenon --- Nutrition Process --- Nutritional Phenomena --- Nutritional Physiological Phenomenon --- Nutritional Physiology --- Nutritional Physiology Concepts --- Nutritional Physiology Phenomenon --- Nutritional Process --- Nutritional Processes --- Nutrition Physiological Phenomena --- Nutrition Physiology --- Nutrition Processes --- Nutritional Physiology Phenomena --- Concept, Nutrition Physiological --- Concept, Nutritional Physiology --- Concepts, Nutrition Physiological --- Concepts, Nutritional Physiology --- Nutrition Physiological Concept --- Nutritional Physiology Concept --- Phenomena, Nutrition --- Phenomena, Nutrition Physiological --- Phenomena, Nutritional --- Phenomena, Nutritional Physiological --- Phenomena, Nutritional Physiology --- Phenomenon, Nutrition Physiological --- Phenomenon, Nutritional Physiological --- Phenomenon, Nutritional Physiology --- Physiological Concept, Nutrition --- Physiological Concepts, Nutrition --- Physiological Phenomena, Nutrition --- Physiological Phenomena, Nutritional --- Physiological Phenomenon, Nutrition --- Physiological Phenomenon, Nutritional --- Physiology Concept, Nutritional --- Physiology Concepts, Nutritional --- Physiology Phenomena, Nutritional --- Physiology Phenomenon, Nutritional --- Physiology, Nutrition --- Physiology, Nutritional --- Process, Nutrition --- Process, Nutritional --- Processes, Nutrition --- Processes, Nutritional --- Normalcy --- Normality --- Normalities --- Health aspects --- Physiology --- Diet --- Dietetics --- Digestion --- Food habits --- Malnutrition --- Medicine --- Diseases --- Holistic medicine --- Hygiene --- Well-being --- Nutritional Sciences --- Phototrophic Processes --- Autotrophic Processes --- Heterotrophic Processes --- Chemoautotrophic Growth --- diet-disease associations --- diet-related non-communicable diseases --- diet related diseases --- food-related diseases --- food-related disorders --- nutrition-related disorders --- nutrition disorders --- nutritional diseases --- nutritional disorders --- noninfectious diseases --- deficiency diseases --- dental caries --- eating disorders --- food allergies --- food intolerance --- foodborne illness --- malabsorption --- obesity --- acute dietary exposure --- animal nutrition --- anorexia --- carbohydrate metabolism disorders --- cardiovascular diseases --- chronic dietary exposure --- diabetes --- digestive system diseases --- digestive system neoplasms --- failure to thrive --- gastrointestinal neoplasms --- human nutrition --- hypertension --- inherited metabolic diseases --- lipid metabolism disorders --- neoplasms --- nutrient deficiencies --- nutrient excess --- nutrition risk assessment --- nutritional adequacy --- nutritional status --- osteoporosis --- public health --- wasting syndrome --- Biological Sciences --- adapted feeding --- diet --- energy deficiencies --- energy intake --- feeding methods --- food availability --- nutrient intake --- nutrigenomics --- nutrition physiology --- nutrition research --- nutrition science --- optimal nutrition --- plant nutrition --- weight control --- nutrient use efficiency --- trophic levels --- trophic relationships --- overnutrition --- nutritional ecology --- Nutritional Physiological Phenomena --- Man --- Effects of diet --- Serials. --- Serials