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>
Sleep disturbance in Mowat-Wilson syndrome
Middle Aged; Male; Severity of Illness Index; Surveys and Questionnaires; Child; Humans; Adult; Adolescent; Female; Child Preschool; Australia; Mutation; Facies; Hirschsprung Disease/di [Diagnosis]; Intellectual Disability/di [Diagnosis]; Microcephaly/di [Diagnosis]; Sleep Initiation and Maintenance Disorders/di [Diagnosis]; 0 (Homeodomain Proteins); 0 (Repressor Proteins); 0 (ZEB2 protein human); Behavior Rating Scale; Gene Expression; Hirschsprung Disease/co [Complications]; Hirschsprung Disease/ge [Genetics]; Hirschsprung Disease/pp [Physiopathology]; Homeodomain Proteins/ge [Genetics]; Intellectual Disability/co [Complications]; Intellectual Disability/ge [Genetics]; Intellectual Disability/pp [Physiopathology]; Microcephaly/co [Complications]; Microcephaly/ge [Genetics]; Microcephaly/pp [Physiopathology]; Mowat-Wilson syndrome; Repressor Proteins/ge [Genetics]; Sleep Initiation and Maintenance Disorders/co [Complications]; Sleep Initiation and Maintenance Disorders/ge [Genetics]; Sleep Initiation and Maintenance Disorders/pp [Physiopathology]; sleep disturbance/disorders; Mowat-Wilson syndrome; trajectory; characteristics
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirschsprung disease. The current study investigated sleep disturbance in people with MWS. In a series of unstructured interviews focused on development and behaviors in MWS, family members frequently reported sleep disturbance, particularly early-morning waking and frequent night waking. The Sleep Disturbance Scale for Children (SDSC) was therefore administered to a sample of 35 individuals with MWS, along with the Developmental Behaviour Checklist (DBC) to measure behavioral and emotional disturbance. A high level of sleep disturbance was found in the MWS sample, with 53% scoring in the borderline range and 44% in the clinical disorder range for at least one subscale of the SDSC. Scores were highest for the Sleep-wake transition disorders subscale, with 91% of participants reaching at least the borderline disorder range. A significant positive association was found between total scores on the SDSC and the DBC Total Behaviour Problem Score. These results suggest that sleep disorders should be screened for in people with MWS, and where appropriate, referrals to sleep specialists made for management of sleep problems.Copyright © 2015 Wiley Periodicals, Inc.
Evans E; Mowat D; Wilson M; Einfeld S
American Journal of Medical Genetics Part A
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.a.37502" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.37502</a>
"His ears are so soft!" Animal-assisted interventions in oncology settings: Implications for oncology social work practice
Clinical Practice; Ear; Oncology; Skill; Social Work Practice; 50-56-6 (oxytocin); 51-61-6 (dopamine); 62-31-7 (dopamine); 54577-94-5 (oxytocin); 60118-07-2 (endorphin); Adult; Animal Experiment; Animal Model; Anxiety; Blood Pressure; Cancer Patient; Cancer Therapy; Cerebrovascular Accident; Distress Syndrome; Dog; Dopamine; Endogenous Compound; Endorphin; Family Study; Female; Gene Expression; Happiness; Heart Rate; Hospice; Hospital Patient; Human; Human Versus Animal Comparison; Infusion; Male; Narrative; Nonhuman; Oxytocin; Pain; Palliative Therapy; Pet Therapy; Program Development; Recreation; Social Support; Storytelling; Symptom; Total Quality Management; Trust; Volunteer; Waiting Room
Content: The use of recreational, expressive, and integrative methods of providing supportive care to patients and families coping with cancer is growing in cancer treatment settings. One such method is animal-assisted interventions (AAI). From the clinic to the infusion suite, to the palliative care office, and to the inpatient hospice, the presence of therapy animals provides an another layer of therapeutic intervention to assist in coping with cancer. AAI can provide cancer patients with an opportunity for emotional support, diversion, recreation, sensory integration/tactile benefit, social support, companionship, and relief of distress and symptoms including pain, depression, anxiety, and isolation. Research also suggests that the simple act of petting a dog can lower heart rate and blood pressure (Friedman, 2015), as well as increase levels of oxytocin, dopamine, and endorphins (Uyemura, 2013). Oxytocin influences happiness and trust in individuals. "Oxytocin has some powerful effects for us in the body's ability to be in a state of readiness to heal.so it predisposes us to an environment in our bodies where we can be healthier" (http://www.npr.org/sections/health-shots/2012/03/09/146583986/ pet-therapy-how-animals-and-humans-heal-each-other). In addition, the therapy animal serves as a vehicle of communication, narrative, and storytelling. Imagine a patient sitting anxiously in the waiting room. He or she strokes the therapy dog gently and is taken to another time and place without cancer. He or she reflects on his or her own dog's roles in his or her life, how he or she rescued the dog, plays with the dog, sleeps with the dog. He or she is distracted, relaxed, and utilizing his or her own story to invoke feelings of happiness, normalcy, and hope. This presentation will examine the history, function, and roles of animal-assisted therapy and activities in various settings. The benefits of AAI with cancer patients (both adults and children) as well as with oncology professionals will also be presented. AAI as a method of integrative supportive oncology therapy will be addressed. The benefits of AAI as well as barriers and limitations for these programs in oncology settings will be reviewed. We will explore AAI program development and evaluation through presentation of results from quality improvement surveys completed by program participants. Suggestions for program development, volunteer recruitment and retention, and therapy dog support will also be discussed. Case presentations of AAI in action from various oncology settings will be a highlight of this presentation.
Bach C
Journal Of Psychosocial Oncology
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/10.1080/07347332.2016.1147913" target="_blank" rel="noreferrer">10.1080/07347332.2016.1147913</a>