Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.

Arginine-glycine amidinotransferase (AGAT) deficiency is a rare inherited metabolic disorder that severely affects brain bioenergetics. Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features. In some cases of AGAT deficiency, creatine treatment might be somewhat limited due to possible shortcomings in performance and transport of creatine to the brain. Guanidinoacetic acid (GAA), a direct metabolic precursor of creatine, has recently been suggested as a possible alternative to creatine to tackle brain creatine levels in experimental medicine. AGAT patients might benefit from oral GAA due to upgraded bioavailability and convenient utilization of the compound, while possible drawbacks (e.g. brain methylation issues, neurotoxicity, and hyperhomocysteinemia) should be accounted as well.

Vitamin D, bone mineral density and risk of fracture in people with intellectual disabilities.

BACKGROUND: People with intellectual disabilities (IDs) have very high rates of osteoporosis and fractures, to which their widespread vitamin D deficiency and other factors could contribute. We aimed to assess in people with IDs previously treated for vitamin D deficiency (1) long-term adherence to vitamin D supplementation and (2) bone mineral density (BMD), as an indicator for risk of fractures, according to vitamin D supplementation and other factors. METHOD: We recorded height, weight, medical, pharmacological, dietary and lifestyle assessment. Blood sample were taken for vitamin D and related analytes. dual-energy X-ray absorptiometry for BMD was performed. RESULTS: Of 51 study participants (mean [standard deviation, SD] age 51.5 [13.6] years, 57% male), 41 (80.4%) were taking vitamin D and 10 were not. Mean [SD] serum vitamin D was 81.3 [21.3] vs. 25.2 [10.2] nmol/L (P < 0.0001), respectively. Thirty-six participants underwent a dual-energy X-ray absorptiometry scan, which showed osteoporosis in 23.7% and osteopenia in 52.6%. Participants on vitamin D had higher BMD than those who were not, a statistically significant difference when confounders (lack of mobility and hypogonadism) were removed. BMD was significantly different according to mobility, particularly in wheelchair users, in whom hip BMD was 33% lower (P < 0.0001) than in participants with normal mobility. Participants still taking vitamin D showed a 6.1% increase in BMD at the spine (P = 0.003) after mean [SD] 7.4 [1.5] years vitamin D treatment. CONCLUSIONS: In people with IDs and previous vitamin D deficiency, BMD increases on long-term vitamin D supplementation. However, additional strategies must be considered for osteoporosis and fracture prevention in this population.

Protective effects of dietary supplementation with natural ω-3 polyunsaturated fatty acids on the visual acuity of school-age children with lower IQ or attention-deficit hyperactivity disorder.

OBJECTIVE: Little attention has been paid to the possible protective role of ω-3 polyunsaturated fatty acids (PUFAs) on the visual acuity of school-age children with lower IQs or attention-deficit hyperactivity disorder (ADHD). The aim of this study was to evaluate the effect of dietary ω-3 PUFAs on the visual acuity and red blood cell (RBC) fatty acid compositions of these children. METHODS: We randomly assigned 179 children with lower IQs or ADHD to receive ordinary eggs (control group, n = 90) or eggs rich in C18:3 ω-3, eicosapentaenoic acid (EPA, 20:5 ω-3) and docosahexaenoic acid (DHA, 22:6 ω-3) for 3 mo (study group, n = 89). Before and after the intervention, distance visual acuity was tested using an E chart and the RBC fatty acid composition was determined using capillary gas chromatography. RESULTS: Three months later, 171 children completed the follow-up with the exception of 8 children who were unavailable during follow-up. Both groups of children showed a significant improvement in visual acuity (P < 0.05), however, visual acuity in the study group was significantly better than that of the control group (P = 0.013). The C18:3 ω-3 (P = 0.009), DHA (P = 0.009) and ∑ω-3 (P = 0.022) levels of the intervention group were significantly higher than those of the control group, while the C20:4 ω-6 (P = 0.003), C22:4 ω-6 (P = 0.000), ∑ω-6 (P = 0.001), ∑ω-6/∑ω-3 (P = 0.000) and arachidonic acid/DHA (P = 0.000) of the study group were significantly lower than those of the control group. No significant differences in the levels of C18:2 ω-6 (P = 0.723), C20:2 ω-6 (P = 0.249), C20:3 ω-6 (P = 0.258), C20:5 ω-3 (P = 0.051), or C22:5 (P = 0.200) were found between the two groups. CONCLUSIONS: Dietary supplementation with ω-3 PUFAs improves both visual acuity and the RBC fatty acid profile in school-age children with lower IQs or ADHD.

Position of the Academy of Nutrition and Dietetics: nutrition services for individuals with intellectual and developmental disabilities and special health care needs.

It is the position of the Academy of Nutrition and Dietetics that nutrition services provided by registered dietitian nutritionists (RDNs) and nutrition and dietetics technicians, registered (NDTRs), who work under RDN supervision, are essential components of comprehensive care for adults with intellectual and developmental disabilities (IDD) and children and youth with special health care needs (CYSHCN). Nutrition services should be provided throughout life in a manner that is interdisciplinary, family-centered, community based, and culturally competent. Individuals with IDD and CYSHCN have many risk factors requiring nutrition interventions, including growth alterations (eg, failure to thrive, obesity, or growth retardation), metabolic disorders, poor feeding skills, drug-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition. Furthermore, these individuals are also more likely to develop comorbid conditions, such as obesity or endocrine disorders that require nutrition interventions. Poor nutrition-related health habits, limited access to services, and long-term use of multiple medications are considered health risk factors. Timely and cost-effective nutrition interventions can promote health maintenance and reduce risk and cost of comorbidities and complications. Public policy for individuals with IDD and CYSHCN has evolved, resulting in a transition from institutional facilities and programs to community and independent living. The expansion of public access to technology and health information on the Internet challenges RDNs and NDTRs to provide accurate scientific information to this rapidly growing and evolving population. RDNs and NDTRs with expertise in this area are best prepared to provide appropriate nutrition information to promote wellness and improve quality of life.

Vitamin D supplementation in children with epilepsy and intellectual disability.

BACKGROUND: Children with epilepsy and intellectual disability have an increased risk of vitamin D deficiency. In this patient group, it is neither clear which factors are associated with the level of 25-hydroxyvitamin D nor what the therapeutic results are when Dutch guidelines are followed. METHODS: This retrospective study included 30 patients who, in October 2012, were residents of the children's wards of a tertiary epilepsy center in The Netherlands (Kempenhaeghe). From November 2012 onward they received cholecalciferol supplementation in doses that met or exceeded Dutch guidelines. At baseline, after 6, and 15 months, serum 25-hydroxyvitamin D concentration was measured. RESULTS: At baseline, the vitamin D status in 11 (36.7%) residents was found to be deficient, in 10 (33.3%) to be insufficient and in 9 (30.0%) sufficient. Supplementation dose, diet, body mass index, intellectual disability, and mobility were significantly associated with baseline 25-hydroxyvitamin D concentrations. The mean 25-hydroxyvitamin D concentration increased significantly from 57.40 ± 22.00 nmol/L at baseline to 89.47 ± 26.77 nmol/L after 15 months (P < 0.001). In spite of supplementation ranging from 400 to 1200 IU/day, 64% of the residents in the deficient category and 30% of those with an insufficient level at baseline failed to attain a sufficient vitamin D status after 15 months. CONCLUSIONS: Not all residents reached a sufficient vitamin D status after supplementation at least equal to the amount recommended by the Dutch guidelines. In a high-risk population, such as our residents, we advise monitoring 25-hydroxyvitamin D concentrations, adjusting supplementation accordingly and following patients to ensure they reach sufficiency.

Polyunsaturated fatty acid-enriched diet therapy for a child with epilepsy.

The ketogenic diet (KD) is a high-fat, low-carbohydrate diet with an established efficacy for treating medically refractory epilepsy in children. Fatty acids are the most important constituent of the KD in all aspects of efficacy and complications. Among fatty acids, polyunsaturated fatty acids (PUFAs) increase anticonvulsant properties and reduce the complications associated with the high-fat diet. Here, we report a 7-year-old boy with Lennox-Gastaut syndrome combined with mitochondrial respiratory chain complex I deficiency, whose medically intractable seizures have been successfully controlled with a PUFA-enriched modified Atkins diet without any significant adverse events. The diet consists of canola oil and diverse menu items like fish and nuts instead of olive oil and has an ideal 1:2.8 ratio of omega-3 to omega-6. In addition, fractionation of this boy's plasma showed normal levels of fatty acids, including omega-3 (alpha-linoleic acid, eicosapentaenoic acid) and omega-6 (linoleic acid, arachidonic acid) as well as monounsaturated fatty acids (oleic acid). Plasma docosahexanoic acid remained low after PUFA-enriched diet therapy. PUFA-enriched diet therapy is likely to increase the efficacy of diet therapy and reduce complications of a high-fat diet in children with refractory epilepsy.

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Autism spectrum disorders are a genetically heterogeneous constellation of syndromes characterized by impairments in reciprocal social interaction. Available somatic treatments have limited efficacy. We have identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability. The encoded protein is responsible for phosphorylation-mediated inactivation of the E1α subunit of branched-chain ketoacid dehydrogenase (BCKDH). Patients with homozygous BCKDK mutations display reductions in BCKDK messenger RNA and protein, E1α phosphorylation, and plasma branched-chain amino acids. Bckdk knockout mice show abnormal brain amino acid profiles and neurobehavioral deficits that respond to dietary supplementation. Thus, autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome.

Physical activity and nutrition health promotion interventions: what is working for people with intellectual disabilities?

A scoping review of studies on physical activity and nutrition health promotion interventions for individuals with intellectual disabilities was conducted. Searches included MEDLINE, PsycINFO, and CINAHL databases from 1986 through July 2006. The final number included 11 articles comprising 12 studies. Generally, this review indicated some evidence for fitness and psychosocial benefits of community-based physical activity and exercise programs for adults with intellectual disabilities. When combined with a more comprehensive health behavior education program incorporating exercise and nutrition information, some evidence exists for reductions in weight.

Adults with untreated phenylketonuria: out of sight, out of mind.

Some people with phenylketonuria who were born before screening began were never treated and are still alive. Here we report that far fewer people with untreated phenylketonuria were detected than are thought to exist (about 2000). The majority of those traced had high support needs, challenging behaviour and other symptoms of phenylketonuria. No significant differences were found between those who had or had not tried the phenylalanine-restricted diet. A randomised controlled trial is required to examine the effect of trying the low-phenylalanine diet for people with untreated phenylketonuria.

Serum cholinesterases in Down syndrome children before and after nutritional supplementation.

INTRODUCTION: Down syndrome (DS) children have different degrees of developmental abnormalities associated with mental retardation. A cascade of pathological changes triggering alterations in cholinesterase-mediated functions seems to be the cause of neuronal and muscular dysfunctions, such as memory loss, disturbed cognitive skills, and language impairment in virtually all DS individuals, but there are currently no efficacious biomedical treatments for these central nervous system-associated impairments. The present study aimed to evaluate the effects of nutritional supplementation on cholinesterases in serum of DS children. METHODS: Activities of acetyl- and butyrylcholinesterase were analysed in the serum samples of 40 DS children, along with an equal number of age- and sex-matched controls under study. RESULTS: The activities of serum acetyl- and butyrylcholinesterase were found to be low in DS children before nutritional supplementation, compared to controls, and showed considerable improvement after six months of supplementation of zinc in combination with antioxidant vitamins and minerals. A significant improvement was also observed in cognitive skills and behavioural patterns after nutritional supplementation. CONCLUSION: The present pilot study suggests the significance of early intervention with nutritional supplementation in DS children to ameliorate the severity of this disorder.

[Effect of various methods of supplementing magnesium on health status of children under special care]. / Wplyw róznych sposobów suplementacji magnezem na stan zdrowia dzieci specjalnej troski.

Fifty pupils, aged 18 years, with minor mental handicap have been examined. The aim of the work was to evaluate the levels of magnesium, calcium, zinc and copper in serum and in hair in the examined population, and also the levels of magnesium, calcium, zinc and copper in serum and in hair in the examined population, and also the correlation between supplementation and pupils learning effects, perception and ability of concentration. Supplementation method, kind of preparations and their doses were analyzed and estimated accordingly. Investigations dealt with assessment of magnesium supplementation after Dolomit (320 mg for 7 intensive days of each month) and Lactomag (140 mg every day) for 6 months. Effects of supplementation were assessed by results of Vocational Power Test and by average marks before and after treatment. Deficiency of all the examined bioelements both in serum and hair was recorded prior to treatment. After magnesium supplementation, levels of bioelements were significantly changed except magnesium (Tax. 1,2,3,4,). That was due most probably to high deficiency of magnesium before the treatment. The use of these drugs evidently improved mental power of adolescents. There was no difference between the effects exerted by Dolomit and Lactomag, except the higher calcium level in hair after Dolomit treatment. The conclusions is that pupils with mental handicap should be provided with magnesium preparations because their effects are highly positive.

RSH/SLO (Smith-Lemli-Opitz) syndrome: designing a high cholesterol diet for the SLO syndrome.

A high cholesterol diet has been suggested to help prevent the poor reproductive outcomes found in heterozygote carriers of fetuses affected with the Smith-Lemli-Opitz (SLO) syndrome. The theory has also been presented that a high cholesterol medical food may enhance myelination of the central nervous system of the infant and prevent demyelination in the child and adult with SLO. Clinical studies are required to test this hypothesis and to determine the optimal composition of such medical foods. FDA requires proof of efficacy and controls nutrient composition, ingredients, and label claims of medical foods.

The use of a low phenylalanine diet with amino acid supplement in the treatment of behavioural problems in a severely mentally retarded adult female with phenylketonuria.

If phenylketonuria is untreated in infancy, it causes irreversible brain damage. No dietary treatment can alter this brain damage. However, it has been shown that dietary treatment can reduce behaviour disturbances often associated with the condition. In this study, a subject's behaviour was monitored over 18 weeks while on a low phenylalanine diet. Results demonstrate a significant reduction in the level of her disturbed behaviour.

Vitamin supplements and purported learning enhancement in mentally retarded children.

Dr. Ruth Harrell and her colleagues conducted a study in 1981 in which the administration of high dosages of vitamins were determined to dramatically improve the intellectual functioning of mentally retarded children. This paper documents the efforts of its authors to replicate the Harrell et al. research and, although no significant differences were found between active treatment groups and control groups at study's end, a thorough comparison is made between the two research efforts.