Palliative care in 9 children with neurodegeneration with brain iron accumulation
article; body mass; bone density; bone strength; botulinum toxin; child; clinical article; contracture; controlled study; densitometry; dystonia; facilitation; female; femur; home care; Hospice and Palliative Care Nursing; human; hypersalivation; iron; ketogenic diet; male; multidisciplinary team; neurodegeneration with brain iron accumulation; pain; palliative therapy; pathologic fracture; prevention; questionnaire; school child; skeleton; spasticity; spine; thorax
Aim: Evaluation of pediatric palliative home care of families with children suffering from neurodegeneration with brain iron accumulation (NBIA) and their parents. Material and methods: The children were treated at home by a multidisciplinary team. Densitometry was used to evaluate the condition of the skeletal system. Botulinum toxin was injected into the muscles in doses between 22 and 50 units/kg. The quality of palliative care was assessed on the basis of a specially designed questionnaire for parents. Results: The observations were performed on a group of 9 patients with NBIA. On admission, the median age of patients was 9 years (7-14). The average time of palliative home care was 1569 days (34 days-17 years). The median age at death (6 patients) was 11 years (7-15). The botulinum toxin injections gave the following results: reduction of spasticity and dystonia, reduction of spine and chest deformation, relief of pain and suffering, facilitation of rehabilitation and nursing, prevention of permanent contractures, and reduction of excessive salivation. Bone mineral density and bone strength index were reduced. Two patients experienced pathological fracture of the femur. The body mass index at admission varied between 9.8 and 14.9. In 7 cases, introduction of a ketogenic diet resulted in the increase of body mass and height. The ketogenic diet did not worsen the neurological symptoms. The parents positively evaluated the quality of care. Conclusion: Palliative home care is the optimal form of treatment for children with NBIA.
Dangel T; Kmiec T; Januszaniec A; Wazny B
Neurological Sciences
2020
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040054/" target="_blank" rel="noreferrer noopener">10.1007/s10072-019-04099-5</a>
Sleep disorders in Cornelia de Lange syndrome
adolescent; problem behavior; priority journal; gene mutation; intellectual impairment; human; article; child; female; male; controlled study; adult; clinical article; comorbidity; epilepsy; de Lange syndrome; sleep disorder; body mass; gastroesophageal reflux; gene; HDAC8 gene; histone deacetylase 8; NIPBL gene; RAD21 gene; SMC1A gene; SMC3 gene; sleep disturbance/disorders; trajectory; characteristics
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. Sleep disturbances have been frequently reported in CdLS, but these have not been completely characterized, and prevalence data are conflicting. The aim of this paper is to characterize and determine the prevalence of sleep disorders in CdLS patients by means of a validated questionnaire. From November 2012 to November 2013, we asked 46 consecutive parents/caregivers of CdLS patients aged more than 3 years old to fill out the sleep disturbances scale for children (SDSC). The subjects were also characterized by the presence of epilepsy, intellectual disability (ID), behavioral problems, CdLS severity score, gastroesophageal reflux disease (GERD), and genetic test results. An abnormal total sleep score was found in 7 patients (15.2%), 26 (56.5%) showed a borderline total score, and 18 (39.1%) had an abnormal score for at least one SDSC factor. In our study sleep disorders were found to be positively associated to presence of epilepsy, GERD, ID, and behavioral disturbances. No correlation was evident with specific mutations of the different genes, BMI, and severity score. Our results confirm that sleep disorders represent a common problem in CdLS, with higher incidence than in the normal population. In these patients sleep disorders seem to be more prevalent in comorbid settings, representing a clinical indicator for different medical and neuropsychiatric disorders. Better knowledge and characterization of typology of sleep disorders in CdLS patients could permit a more specific therapeutic approach. © 2016 Wiley Periodicals, Inc.
Zambrelli E;Fossati C;Turner K;Taiana M;Vignoli A;Gervasini C;Russo S;Furia F;Masciadri M;Ajmone P;Kullman G; Canevini M P; Selicorni A
American Journal of Medical Genetics Part C - Seminars in Medical Genetics
2016
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.c.31497" target="_blank" rel="noreferrer noopener">10.1002/ajmg.c.31497</a>
Supplementation with carnitine reduces the severity of constipation: A retrospective study of patients with severe motor and intellectual disabilities
cerebral palsy; enteric feeding; clinical trial; endogenous compound; sex difference; human tissue; intellectual impairment; school child; preschool child; gene expression; medical record review; human; article; child; female; male; controlled study; adult; clinical article; young adult; hospital; middle aged; disease severity; retrospective study; body mass; cholesterol/ec [Endogenous Compound]; infantile spasm; neuronal ceroid lipofuscinosis; clobazam/dt [Drug Therapy]; clonazepam/dt [Drug Therapy]; carnitine; carnitine deficiency/dt [Drug Therapy]; carnitine/dt [Drug Therapy]; constipation; constipation/dt [Drug Therapy]; constipation/pc [Prevention]; diet supplementation; motor dysfunction; 102767-28-2 (levetiracetam); 1069-66-5 (valproic acid); 1309-48-4 (magnesium oxide); 1317-74-4 (magnesium oxide); 14093-02-8 (iron); 14378-32-6 (zinc); 146-22-5 (nitrazepam); 1622-61-3 (clonazepam); 22316-47-8 (clobazam); 298-46-4 (carbamazepine); 461-06-3 (carnitine); 50-06-6 (phenobarbital); 53858-86-9 (iron); 541-15-1 (carnitine); 56-99-5 (carnitine); 57-30-7 (phenobarbital); 57-88-5 (cholesterol); 59-30-3 (folic acid); 6484-89-5 (folic acid); 68291-97-4 (zonisamide); 7439-89-6 (iron); 7440-66-6 (zinc); 7782-49-2 (selenium); 8028-68-0 (phenobarbital); 8047-84-5 (carbamazepine); 84057-84-1 (lamotrigine); 99-66-1 (valproic acid); acute brain disease; albumin; albumin blood level; anticonvulsant therapy; bacterial meningitis; bed rest; brain infarction; carbamazepine/dt [Drug Therapy]; carnitine deficiency; carnitine deficiency/dt [Drug Therapy]; cholesterol blood level; constipation/dt [Drug Therapy]; copper blood level; cupric ion/ec [Endogenous Compound]; enema/dt [Drug Therapy]; epilepsy/dt [Drug Therapy]; folic acid; folic acid blood level; folic acid/ec [Endogenous Compound]; groups by age; iron blood level; iron/ec [Endogenous Compound]; lamotrigine/dt [Drug Therapy]; levetiracetam/dt [Drug Therapy]; magnesium oxide/dt [Drug Therapy]; nitrazepam/dt [Drug Therapy]; Pelizaeus Merzbacher disease; periventricular leukomalacia; phenobarbital/dt [Drug Therapy]; prealbumin; prealbumin/ec [Endogenous Compound]; selenium blood level; selenium/ec [Endogenous Compound]; trace element; tuberous sclerosis; valproic acid; valproic acid/dt [Drug Therapy]; zinc/ec [Endogenous Compound]; zonisamide/dt [Drug Therapy]; constipation; NCL3; Pelizaeus- Merzbacher disease; tuberous sclerosis; West syndrome; pharmacologic intervention; Carnitine
Carnitine is an essential nutrient for the mitochondrial transport of fatty acids. Carnitine deficiency causes a variety of symptoms in multiple organs. Patients with severe motor and intellectual disabilities often have carnitine deficiency. This study aimed to determine the correlation between constipation and carnitine deficiency in them. Patients with severe motor and intellectual disabilities at our hospital were retrospectively reviewed. The correlation between level of free carnitine and severity of constipation was examined. Constipation and non-constipation groups were compared for age; sex; body mass index; bed rest period; use of anti-epileptic drugs, valproate sodium, or enteral nutrition; and serum levels of albumin, pre-albumin, totalcholesterol, free carnitine, folic acid, and trace elements. Moreover, severity of constipation before and after carnitine supplementation was assessed. Twenty-seven patients were enrolled. Of these, 14 were assigned to the constipation group and 13 to the non-constipation group. The free carnitine level was significantly correlated with severity of constipation (R = 0.7604, p<0.01). Free carnitine was significantly lower in the constipation compared with the non-constipation group (p<0.01). No other significant differences between the groups were found. The severity of constipation was significantly relieved after carnitine supplementation (p<0.001). In conclusion, carnitine supplementation could reduce the severity of constipation. Copyright © 2017 JCBN.
Murata S; Inoue K; Aomatsu T; Yoden A; Tamai H
Journal of Clinical Biochemistry and Nutrition
2017
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.3164/jcbn.16-52" target="_blank" rel="noreferrer noopener">10.3164/jcbn.16-52</a>