Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The occurrence of signs and symptoms in the Rett syndrome (RS) was analyzed in a series of females born 1945-87 (median age 17 1/2 years) and fulfilling the diagnostic criteria for classic RS. For general information, data from 91 girls and women were used (group A), while the more detailed analyses were based on three age related subgroups: the youngest 20, born 1980-87 (group B); the 34 girls born 1970-79 (group C); and the oldest 37, born 1945-69 (group D). Data from group A indicated a developmental stagnation (stage I) at median age 11 (5-24) months and loss of ability to use acquired skills (stage II) at 19 (12-36) months. Group B displayed subtle prodromes in the first months of life, and later in infancy gross motor delay with insufficient equilibrium control. Development invariably came to a definite break at a crucial stage of maturation and was followed by a remarkable "awakening" and return of interest to act and interact (stage III). Loss of skills belonged to the triad contact/communication, hand use/skill, and babble/words. By age 2 1/2 years, apraxia and involuntary and stereotyped movements, were found in all. Seizures, hyperventilation and spells of screams and laughter were more frequent in group C (94%, 65% and 71%, respectively), and breathholding, bloating and drooling in group D (73%, 43% and 81%, respectively). Plantar flexion and abiotrophy of feet, as well as peroneal weakness and scoliosis, increased with age and was found in 89%, 86%, and 89%, respectively. The sequence of events described, emerged as subtle insufficiency and more or less abruptly turned into loss. Conversely to known progressive encephalopathies, the deterioration was followed by excess of activity, only years later to turn into restriction.
 ...
PMID:Age-related occurrence of signs and symptoms in the Rett syndrome. 137 44

Patients with developmental disorders, including adolescents, comprise a large and heterogeneous group of individuals who vary in underlying diagnosis and degree of disability. The largest numbers of patients are those with cerebral palsy and with traumatic brain injury. While these conditions themselves do not directly cause airway or parenchymal lung dysfunction, consequences of neuromuscular dysfunction, especially aspiration and ineffective cough, may lead to lung damage. Poor nutritional status, impairment of airway clearance by muscular weakness or incoordination and poor pulmonary reserve (due to chest wall or spine deformity) increase the risk of significant morbidity and mortality from respiratory infections. Individuals who were premature infants or who had prolonged neonatal courses may also have residual chronic lung disease (bronchopulmonary dysplasia) contributing to their pulmonary problems. This review discusses conditions that have adverse effects on the airway and lung (drooling, feeding problems, gastroesophageal reflux, aspiration, spasticity, scoliosis) and some of the consequences of these insults (disordered airway clearance, pneumonia, sleep apnea). Also discussed are issues important to the prevention or amelioration of respiratory difficulties, including preventive care, the effects of exercise, dental hygiene, and surgical intervention.
 ...
PMID:Respiratory problems in the adolescent with developmental delay. 1106 May 58

Drooling is a common problem in children with progressive dystonia. The authors noted a 58% incidence of drooling in 22/38 children with MEGDEL, a rare neurodegenerative cause of dystonia and report on the clinical course of four patients. Drooling of varying severity and subsequent respiratory problems were treated at the authors' multidisciplinary saliva-control outpatient clinic. One patient improved on antireflux medication, the second after medication with drooling as side effect was changed. Two other patients underwent salivary gland surgery, one of whom significantly improved; the other died shortly after surgery. The heterogeneity of the cases presented shows the need for stepwise and personalized treatment. The authors recommend the following: (1) optimize the treatment of the underlying neurological condition and replace medication that stimulates saliva secretion; (2) treat constipation, scoliosis, and gastroesophageal reflux if there is still a risk of chronic aspiration of saliva; (3) perform more intense/invasive treatment (botulinum toxin, salivary gland surgery).
 ...
PMID:Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome. 2722 7

Whole-exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, microcephaly and stereotypies but is yet to be fully described. Presented here are 14 new patients with IQSEC2 variants. In addition to the established features, we observed: gait ataxia in 7 of 9 (77.8%), drooling in 9 of 14 (64.2%), early feeding difficulties in 7 of 14 (50%), structural brain abnormalities in 6 of 13 (46.2%), brachycephaly in 5 of 14 (35.7%), and scoliosis and paroxysms of laughter each in 4 of 14 (28.6%). We suggest that these are features of the IQSEC2-related disorder. Gastrostomy requirement, plagiocephaly, strabismus and cortical blindness, each seen in 2 of 14 (14.3%), may also be associated. Shared facial features were noted in 8 of 14 patients, and shared hair patterning was identified in 5 of 14 patients. This study further delineates the IQSEC2 phenotypic spectrum and supports the notion of an emerging IQSEC2 syndrome. We draw parallels between the IQSEC2-related disorder and the Angelman-/Rett-/Pitt-Hopkins syndrome group of conditions and recommend the addition of IQSEC2 to epilepsy and developmental delay gene panels. We observed discordant phenotypes in monozygotic twins and apparent gonadal mosaicism, which has implications for recurrence risk counselling in the IQSEC2-related disorder.
 ...
PMID:Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. 3066 32

Cerebral palsy (CP) is the most common cause of disability in childhood. Respiratory illness is the most common cause of mortality, morbidity, and poor quality of life in the most severely affected children. Respiratory illness is caused by multiple and combined factors. This review describes these factors and discusses assessments and treatments. Oropharyngeal dysphagia causes pulmonary aspiration of food, drink, and saliva. Speech pathology assessments evaluate safety and adequacy of nutritional intake. Management is holistic and may include dental care, and interventions to improve nutritional intake, and ease, and efficiency of feeding. Behavioral, medical, and surgical approaches to drooling aim to reduce salivary aspiration. Gastrointestinal dysfunction, leading to aspiration from reflux, should be assessed objectively, and may be managed by lifestyle changes, medications, or surgical interventions. The motor disorder that defines cerebral palsy may impair fitness, breathing mechanics, effective coughing, and cause scoliosis in individuals with severe impairments; therefore, interventions should maximize physical, musculoskeletal functions. Airway clearance techniques help to clear secretions. Upper airway obstruction may be treated with medications and/or surgery. Malnutrition leads to poor general health and susceptibility to infection, and improved nutritional intake may improve not only respiratory health but also constipation, gastroesophageal reflux, and participation in activities. There is some evidence that children with CP carry pathogenic bacteria. Prophylactic antibiotics may be considered for children with recurrent exacerbations. Uncontrolled seizures place children with CP at risk of respiratory illness by increasing their risk of salivary aspiration; therefore optimal control of epilepsy may reduce respiratory illness. Respiratory illnesses in children with CP are sometimes diagnosed as asthma; a short trial of asthma medications may be considered, but should be discontinued if ineffective. Overall, management of respiratory illness in children with CP is complex and needs well-coordinated multidisciplinary teams who communicate clearly with families. Regular immunizations, including annual influenza vaccination, should be encouraged, as well as good oral hygiene. Treatments should aim to improve quality of life for children and families and reduce burden of care for carers.
 ...
PMID:Evaluation and Management of Respiratory Illness in Children With Cerebral Palsy. 3267 Oct