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Avoidant/restrictive food intake disorder (ARFID) has recently been added to the DSM V (Diagnostic and Statistical Manual of Mental Disorders , 5th edition) as a new class of eating disorders (EDs). ARFID is characterized by a lack of interest in eating or avoiding specific types of foods because of their sensory characteristics. This avoidance results in decreased nutritional intake, eventually causing nutritional deficiencies. In severe cases, ARFID can lead to dependence on oral nutritional supplements, which interferes with psychosocial functioning. The prevalence of ARFID can be as high as 3% in the general population, and it is often associated with gastrointestinal symptoms and mainly appears in children with anxiety disorders. Given the high prevalence of ARFID, a rapid and systematic nutrition survey should be conducted during every pediatric consultation. Its treatment should also be adapted depending on the severity of the nutritional problem and may involve hospitalization with multidisciplinary care (pediatrician, nutritional therapist, dietitian, psychologists, and speech therapists). [ABSTRACT FROM AUTHOR]

Résumé: La phénylcétonurie est traitée par un régime contrôlé en phénylalanine (Phé) depuis 50ans. Ce régime a permis la prise en charge efficace de milliers de patients mais il génère des problèmes de compliance thérapeutique, surtout à partir de l’adolescence. Un traitement médicamenteux (saproptérine dihydrochloride ou Kuvan®) a obtenu une autorisation de mise sur le marché (AMM) européenne en 2009 et peut bénéficier aux patients qui y sont répondeurs. Plusieurs autres options thérapeutiques sont actuellement disponibles dans certains pays étrangers (glycomacropeptides, acides aminés neutres), ou en développement (Phé ammonia lyase, molécules chaperones, thérapie génique). [ABSTRACT FROM AUTHOR]

BACKGROUND: Moderate hyperhomocysteinemia is a risk for neural tube defect and neurodegenerative and vascular diseases and has nutritional, metabolic, and genetic determinants. Its prevalence in sub-Saharan Africa remains unknown. OBJECTIVE: Our goal was to evaluate the prevalence of hyperhomocysteinemia and the influence of nutritional, metabolic, and genetic determinants in savanna and coastal regions of Togo and Benin. DESIGN: Volunteers were recruited from coastal (C groups; n = 208) and savanna (S group; n = 68) regions. Vitamin B-12, folate, total homocysteine (tHcy), cystatin C (a marker of glomerular filtration), and inflammatory and nutritional protein markers were measured in plasma, and the methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A--> C polymorphisms and the methionine synthase 2756A-->G polymorphism were examined in genomic DNA. RESULTS: Moderate hyperhomocysteinemia (tHcy > 15 micromol/L) was recorded in 62.3% and 29.4% of the subjects from the coast and savanna, respectively (P < 0.0001). A histogram distribution of tHcy in the coastal groups showed a distinct group, C2 (15% of the total group), with tHcy > 28 micro mol/L. Folate < 6.75 nmol/L (lower quartile) and MTHFRCT/TT genotype were the 2 main risk factors for moderate hyperhomocysteinemia in the whole population [odds ratios: 5.3 (95% CI: 2.5, 11.2; P < 0.0001) and 4.9 (1.6, 14.8; P = 0.0048), respectively] and in the C2 group [odds ratios: 15.9 (4.5, 56.8; P < 0.0001) and 9.0 (2.3, -35.2; P = 0.0017), respectively]. Cystatin C was another potent risk factor in the C2 group. CONCLUSION: A high prevalence of hyperhomocysteinemia in coastal West Africa, related to folate concentrations and the MTHFR 677 T allele, suggests the need to evaluate the influence of hyperhomocysteinemia on disease in this area. Copyright © 2004 American Society for Clinical Nutrition [ABSTRACT FROM AUTHOR]

Résumé Le syndrome des vomissements cycliques (SVC) est une affection méconnue du corps médical et probablement sous-diagnostiquée qui peut toucher jusqu’à 1,9 % de la population pédiatrique et affecter jusqu’à 15 % du temps de vie de ces enfants. Elle se manifeste par des crises de vomissement, survenant avec une périodicité parfois si précise que certains parents sont en mesure de prédire la date de la prochaine crise de leur enfant. Sa physiopathologie n’est pas totalement élucidée, bien que la littérature abonde dans le sens d’une origine commune avec la migraine dont il partage les traitements de crise et de fond ainsi qu’une part probable d’hérédité mitochondriale. Le SVC fait d’ailleurs désormais partie de la grande famille nosologique des « symptômes épisodiques associés aux migraines », anciennement appelés les « syndromes périodiques de l’enfance ». L’enjeu pour le praticien est de distinguer un SVC authentique d’un autre diagnostic différentiel potentiellement grave. Les examens complémentaires sont orientés en fonction de la symptomatologie. Une prise en charge adaptée permettra une nette amélioration de la qualité de vie des enfants et une diminution de l’absentéisme scolaire. Summary Cyclic vomiting syndrome (CVS) is a misrecognized and probably underdiagnosed disease that can affect up to 1.9% of the pediatric population and can occupy 15% of these children's time. It is characterized by acute attacks of vomiting, occurring with such a strict frequency that some parents can predict the date of their child's next attack. The pathophysiology of CVS is unclear, although the literature recognizes a common origin with migraine headaches, which has the same acute and prophylactic treatment. CVS is now included in the larger group of diseases called “episodic symptoms related to migraine” previously known as “childhood periodic syndromes.” To distinguish between real CVS and other differential diagnoses can challenge the clinician. Additional investigations must be considered in accordance with the clinical presentation. Appropriate management of CVS should lead to an improvement in quality of life and school attendance. [ABSTRACT FROM AUTHOR]

Summary Vitamin A (retinol) fulfills multiple functions in vision, cell growth and differentiation, embryogenesis, the maintenance of epithelial barriers and immunity. A large number of enzymes, binding proteins and receptors facilitate its intestinal absorption, hepatic storage, secretion, and distribution to target cells. In addition to the preformed retinol of animal origin, some fruits and vegetables are rich in carotenoids with provitamin A precursors such as β-carotene: 6 μg of β-carotene corresponds to 1 μg retinol equivalent (RE). Carotenoids never cause hypervitaminosis A. Determination of liver retinol concentration, the most reliable marker of vitamin A status, cannot be used in practice. Despite its lack of sensitivity and specificity, the concentration of retinol in blood is used to assess vitamin A status. A blood vitamin A concentration below 0.70 μmol/L (200 μg/L) indicates insufficient intake. Levels above 1.05 μmol/L (300 μg/L) indicate an adequate vitamin A status. The recommended dietary intake increases from 250 μg RE/day between 7 and 36 months of age to 750 μg RE/day between 15 and 17 years of age, which is usually adequate in industrialized countries. However, intakes often exceed the recommended intake, or even the upper limit (600 μg/day), in some non-breastfed infants. The new European regulation on infant and follow-on formulas (2015) will likely limit this excessive intake. In some developing countries, vitamin A deficiency is one of the main causes of blindness and remains a major public health problem. The impact of vitamin A deficiency on mortality was not confirmed by the most recent studies. Periodic supplementation with high doses of vitamin A is currently questioned and food diversification, fortification or low-dose regular supplementation seem preferable. [ABSTRACT FROM AUTHOR]

Baby-led weaning (BLW), proposed as a new form of complementary feeding, has emerged as a real trend phenomenon in the media. Infants are seated at the family table from the age of 6 months, facing the foods they grab and bring to their mouth: they decide which foods they want to eat and what amount. The consumption of mashed foods and the use of a spoon are totally discouraged. BLW is increasingly used in nurseries and centers of young children. A bibliographic search carried out between 2000 and 2021 found 423 articles, of which 38 were selected. The clinical studies selected are 11 cross-sectional observational studies and two randomized controlled studies. BLW promotes breastfeeding, the early introduction of morsels, the respect of the child's appetite, the use of unprocessed foods, and the choice of "homemade" and friendliness. These benefits can nonetheless be reached with usual complementary feeding (SCF), according to current recommendations. Other benefits are claimed without scientific evidence such as easier achievement of dietary complementary feeding and an optimal growth with prevention of excess weight gain. BLW has some obvious downsides. The infant may not get enough energy, iron, zinc, vitamins, and other nutrients, or too much protein, saturated fat, salt, or sugar. The risk of choking, which must be distinguished from the physiological gagging reflex, has not been ruled out by scientific studies. Currently, the Nutrition Committee of the French Pediatric Society considers that the data published to date in terms of benefits and risks of BLW do not lend themselves to advice for this practice in preference over SCF carried out according to current recommendations. [ABSTRACT FROM AUTHOR]

Summary: Hypervitaminosis A is an unusual cause of infant hypercalcemia. The way it occurs can be very surprising, as one can notice from the following case report. Case reports: A three-year-old boy, presenting important behavioral disorders, was hospitalized because of a deterioration of his general state of health associated with vomiting, cephalgias, fever and cutaneous abnormalities. A 168mg/L hypercalcemia was found. The only etiology is a deviant consumption of vitamin A within the framework of an “autistic diet”: 100000UI/d during three months, and then 150000UI/d the three following months. Intoxication was confirmed by the increased vitamin A plasmatic level, and vitamin A/RBP molar ratio and by the presence of plasmatic retinyl palmitate. An emergency treatment by rehydration, biphosphonates and furosemide led to effective calcemia normalization. Conclusion: In the case of nonobvious causes of hypercalcemia, a thorough cross-examination must look for vitamin A intoxication. Our observation illustrates the danger of certain diets suggested for autistic children. [Copyright &y& Elsevier]

Abstract: Phenylketonuria (PKU) is an inherited metabolic disease affecting about one birth out of 15 000. From 1978, a national systematic neonatal screening was set up in France with a regional organisation. French rational and guidelines have been established by the national PKU group with the collaboration of all the physicians responsible for the regional centres. These guidelines specify the minimal diagnosis procedures leading to an optimal treatment of all patients. A low-phenylalanine diet must be started as soon as possible in the neonatal period for all newborns whose phenylalanine levels are above 10 mg/dl. The dietary control must keep the phenylalanine plasma levels between 2 and 5 mg/dl until 10 years of age. After this age, several data argue for a progressive and controlled relaxation of the diet, keeping the phenylalanine level below 15 mg/dl until the end of the adolescence and below 20 to 25 mg/dl in adulthood. All PKU patients must be followed up for life, in order to screen those who may not bear the diet relaxation and in order to strictly prevent maternal PKU deleterious consequences. [Copyright &y& Elsevier]

Non-alcoholic fatty liver disease (NAFLD) is a highly prevalent chronic liver disease that occurs mostly in the context of insulin resistance and obesity. It has rapidly evolved into the most common cause of liver disease among children. The incidence is high in obese children and a greater risk of disease progression is associated with severe obesity, highlighting the role of nutrition. To date, there is no consensus on NAFLD management. This is a narrative review of clinical studies on the potential benefit of nutritional interventions, including lifestyle modifications, vitamins, docosahexaenoic acid, and probiotics in children with NAFLD. The Comité de nutrition de la Société Française de Pédiatrie (CN-SFP) emphasizes the effect of limiting added sugar intake, i.e., fructose or sucrose-containing beverages, and promoting physical activity in the care of NAFLD. [ABSTRACT FROM AUTHOR]

Foods for special medical purposes (FSMPs) with a protein fraction made of hydrolyzed rice protein (HRPs) have been on the market in Europe since the 2000s for the treatment of cow's milk protein allergy (CMPA). HRP formulas (HRPFs) are proposed as a plant-based alternative to cow's milk protein-based extensively hydrolyzed formulas (CMP-eHF) beside the soy protein formulas whose use in CMPA is controversial. HRPFs do not contain phytoestrogens and are derived from non-genetically modified rice. HRPFs are strictly plant-based apart from the addition of vitamin D 3 (cholecalciferol). As the amino acid content of rice proteins differs from that of human milk proteins, the protein quality of these formulas is improved by supplementation with free lysine, threonine, and tryptophan. The consumption of HRPFs has risen: for example, in France HRPFs account for 4.9% in volume of all formulas for children aged 0–3 years. Several studies have shown the adequacy of HRPFs in treating CMPA. They ensure satisfactory growth from the 1st weeks of life for infants and toddlers, both in healthy children and in those with CMPA. HRPFs can be used to treat children with CMPA either straightaway or in second intention in cases of poor tolerance to CMP-eHF for organoleptic reasons or for lack of efficacy. In France, the cost of HRPFs is close to that of regular infant or follow-on formulas. [ABSTRACT FROM AUTHOR]

Inherited metabolic diseases (IMD) form a heterogeneous group of genetic disorders that surface primarily during childhood and result in significant morbidity and mortality. A prevalence of 1 in 2500–5000 live births is often reported. The transfer of adolescents from pediatric care to adult health facilities is often difficult for patients and their families and can lead to a breakdown in medical follow-up and therefore serious complications. Existing recommendations for the successful transition of patients with chronic disorders do not specifically address patients with IMDs associated with dietary treatment. Here, the French network for rare inherited metabolic diseases (G2M) presents its reflections and recommendations for a successful transition. Preparations for the transfer must be made well in advance. The transfer must aim for adolescents gaining autonomy by making them responsible and providing them with the knowledge that will enable them to manage their care themselves, know how to react appropriately if there is any change in their condition, and move comfortably within the adult healthcare system. This requires the active participation of the patient, his or her family, and pediatric and adult care teams. It involves multidisciplinary management plus the production and maintenance of an educational therapy program. Finally, the identification of physicians and dietitians trained in IMDs, relevant subspecialists, and even expert patients could improve the continuum of complete and appropriate care for these patients within adult medicine. [ABSTRACT FROM AUTHOR]

Due to transient gut immaturity, most very preterm infants receive parenteral nutrition (PN) in the first few weeks of life. Yet providing enough protein and energy to sustain optimal growth in such infants remains a challenge. Extrauterine growth restriction is frequently observed in very preterm infants at the time of discharge from hospital, and has been found to be associated with later impaired neurodevelopment. A few recent randomized trials suggest that intensified PN can improve early growth; whether or not such early PN improves long-term neurological outcome is still unclear. Several other questions regarding what is optimal PN for very preterm infants remain unanswered. Amino acid mixtures designed for infants contain large amounts of branched-chain amino acids and taurine, but there is no consensus on the need for some nonessential amino acids such as glutamine, arginine, and cysteine. Whether excess growth in the first few weeks of life, at a time when very preterm infants receive PN, has an imprinting effect, increasing the risk of metabolic or vascular disease at adulthood continues to be debated. Even though uncertainty remains regarding the long-term effect of early PN, it appears reasonable to propose intensified initial PN. The aim of the current position paper is to review the evidence supporting such a strategy with regards to the early phase of nutrition, which is mainly covered by parenteral nutrition. More randomized trials are, however, needed to further support this type of approach and to demonstrate that this strategy improves short- and long-term outcome. [ABSTRACT FROM AUTHOR]

Cow's milk is one of the most common foods responsible for allergic reactions in children. Cow's milk allergy (CMA) involves immunoglobulin E (IgE)- and non-IgE-mediated reactions, the latter being both variable and nonspecific. Guidelines thus emphasize the need for physicians to recognize the specific syndromes of CMA and to respect strict diagnostic modalities. Whatever the clinical pattern of CMA, the mainstay of treatment is the elimination from the diet of cow's milk proteins. The challenge is that both the disease and the elimination diet may result in insufficient height and weight gain and bone mineralization. If, during CMA, the mother is not able or willing to breastfeed, the child must be fed a formula adapted to CMA dietary management, during infancy and later, if the disease persists. This type of formula must be adequate in terms of allergic efficacy and nutritional safety. In older children, when CMA persists, the use of cow's milk baked or heated at a sufficient temperature, frequently tolerated by children with CMA, may help alleviate the stringency of the elimination diet. Guidance on the implementation of the elimination diet by qualified healthcare professionals is always necessary. This guidance should also include advice to ensure adequate bone growth, especially relating to calcium intake. Specific attention should be given to children presenting with several risk factors for weak bone mineral density, i.e., multiple food allergies, vitamin D deficiency, poor sun exposure, steroid use, or severe eczema. When CMA is outgrown, a prolonged elimination diet may negatively impact the quality of the diet over the long term. [ABSTRACT FROM AUTHOR]

Introduction La phénylcétonurie (PCU) est une maladie métabolique rare qui est dépistée chez tous les nouveau-nés en France. Les enfants atteints sont traités pendant l’enfance par un régime contrôlé en phénylalanine, jusqu’à un âge variable. L’évolution de la maladie à l’âge adulte est partiellement décrite et certains résultats montrent que le pronostic de ces patients n’est pas optimal [1] . L’objectif de notre étude était de décrire l’incidence des complications neuropsychiatriques de ces patients adultes atteints de PCU. Patients et méthodes Le projet ECOPHEN est une étude de cohorte multicentrique prospective de patients adultes atteints de PCU. Tous les patients ont été diagnostiqués suite au dépistage néonatal. Les résultats de la visite d’inclusion sont présentés et exprimés en moyenne ± écart-type. Résultats Cent quatre-vingt-sept patients ont été inclus (127 femmes, 60 hommes, âge 27,6 ± 6,3 ans). Le nombre de patients avec PCU classique, PCU atypique et hyperphénylalaninémie persistante (HMP) était respectivement de 152, 26 et 9. Cinquante-trois pour cent des patients étaient traités par un régime contrôlé en phénylalanine. Au total, 20 patients (10,7 %) ont eu des troubles neurologiques, uniquement dans le groupe PCU classique (céphalées, tremblements, troubles de l’équilibre ou troubles visuels…). Quarante-huit patients (25,7 %) ont développé des troubles psychiatriques variés (dépression anxiété, troubles du comportement alimentaire…), et ce dans les 3 types de PCU : 40 patients (26,3 %) avec PCU classique vs 6 (23,1 %) avec PCU atypique, vs 2 (22,2 %) avec HMP (NS). Discussion Cette étude a permis d’inclure un grand nombre de patients adultes atteints de PCU, majoritairement de type PCU classique. La population féminine est très majoritairement représentée, en raison des enjeux qui concernent la grossesse PCU. Dans cette étude, l’incidence des troubles neurologiques est faible mais non négligeable, avec des manifestations plus ou moins sévères, dont certaines sont réversibles après une reprise de traitement de la PCU. L’incidence des troubles psychologiques/psychiatriques paraît élevée, et ce dans les 3 groupes de patients. L’absence de groupe témoin ne permet pas de savoir si cette incidence est significativement plus élevée par rapport à des sujets sains. Conclusion L’incidence des troubles neuropsychiatriques n’est pas négligeable dans la PCU de l’adulte. Ces résultats suggèrent de maintenir un régime contrôlé en phénylalanine à long terme [2] . Le suivi des patients atteints de PCU doit inclure un dépistage systématique des troubles neuropsychiatriques. [ABSTRACT FROM AUTHOR]

Résumé: L’acidurie L2-hydroxyglutarique est une maladie neuro-métabolique rare d’origine génétique. Elle se manifeste le plus souvent dans l’enfance par un retard mental, une ataxie cérébelleuse et une épilepsie. La macrocéphalie est présente dans la moitié des cas. Le diagnostic est à la fois clinique, biologique, radiologique et moléculaire. Certains traitements peuvent limiter l’évolutivité spontanée de la maladie. Nous rapportons l’observation de deux enfants non apparentés atteints de cette maladie. La présentation clinique neurologique avait conduit à réaliser une imagerie par résonance magnétique (IRM) cérébrale et une analyse des acides organiques urinaires orientant le diagnostic. L’analyse génétique a confirmé le diagnostic. Un traitement par riboflavine et L-carnitine a entraîné une amélioration partielle. Ces observations soulignent l’importance de l’IRM cérébrale pour évoquer ce diagnostic rare de macrocéphalie. L’analyse moléculaire permet de confirmer ce diagnostic et a également un intérêt pour interpréter l’efficacité partielle du traitement par riboflavine et L-carnitine, telle qu’elle a pu être observée dans nos observations. [ABSTRACT FROM AUTHOR]

Abstract: Introduction: Ornithine transcarbamylase (OTC) deficiency is a X-linked inherited disorder characterized by hyperammoniemic encephalopathy in male neonates. However, there is an increased evidence of late-onset disease, including in adults. Case reports: A 23-year-old woman presented with vomiting, somnolence, confusion and hyperammonemia. Familial history revealed OTC deficiency in three brothers and one sister, but urinary orotic acid level was normal at birth in the reported patient who therefore was considered as mutation-free. The mother was asymptomatic but had cognitive defect and moderate mental deficiency. Molecular biology demonstrated that both our patient and her mother were heterozygous for complete OCT deletion. Conclusion: OCT deficiency could be diagnosed in adult patients at any age and clinical features are various, including hyperammonemic encephalopathy, psychiatric disorders or mental deficiency. [ABSTRACT FROM AUTHOR]

Depuis la supplémentation en vitamine D recommandée chez le nourrisson, le rachitisme carentiel a quasiment disparu des pays développés. Les causes génétiques occupent depuis lors une place beaucoup plus importante dans l’étiologie du rachitisme. En 1994, Casella et al. décrivent deux patients suspects de rachitisme pseudo-carentiel présentant des taux faibles de 25-hydroxyvitamine D sans carence ; il faudra attendre dix ans pour que Chang et al. identifient chez ces patients une mutation du gène codant pour la 25-hydroxylase ( CYP2R1 ). Nous rapportons deux familles avec déficit en activité 25-hydroxylase repérées sur les déformations osseuses et la symptomatologie musculaire (hypotonie et fatigabilité). Sous traitement par Dédrogyl®, l’ensemble des symptômes cliniques et biologiques s’est corrigé pour les enfants âgés de moins de 3 ans, alors qu’une chirurgie correctrice du genu valgum sera nécessaire pour les deux enfants plus grand, et ce malgré la normalisation du statut phosphocalcique. La confirmation diagnostique a été apportée par l’étude du gène CPY2R1. L’efficacité du traitement substitutif d’un cout modeste, souligne l’intérêt du diagnostic moléculaire précis de ces pathologies rares dont le diagnostic reste souvent méconnu. [ABSTRACT FROM AUTHOR]