Objectives: To prospectively assess, using polysomnography (PSG), the evolution in obstructive sleep apnea (OSA) in infants with Robin Sequence (RS) during their first year of life and to evaluate the role of PSG in OSA treatment.
Methods: Prospective and longitudinal study conducted in 2 tertiary hospitals (2018-2021). Data from 2 PSG (PSG1 0-3 months of life, PSG2 6-10 months of life) performed in RS infants in different sleep positions/conditions (without treatment: supine [SP]; with treatment: lateral [LP], prone [PP], respiratory support) were analyzed.
Aim: We aimed to investigate the developmental outcome of children with Robin sequence (RS) for whom continuous positive airway pressure was the main strategy to release upper airway obstruction.
Methods: We included children with isolated RS or RS associated with Stickler syndrome who were aged 15 months to 6 years. We used the French version of the Child Development Inventory and calculated the developmental quotient (DQ) for eight different domains and the global DQ (DQ-global).
Developmental abnormalities provide a unique opportunity to seek for the molecular mechanisms underlying human organogenesis. Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achieve a better comprehension. Prenatal detection, syndromic classification, molecular diagnosis, and prognostic factors in EA are challenging.
View Article and Find Full Text PDFDNA polymerase δ is one of the three main enzymes responsible for DNA replication. POLD1 heterozygous missense variants in the exonuclease domain result in a cancer predisposition phenotype. In contrast, heterozygous variants in POLD1 polymerase domain have more recently been shown to be the underlying basis of the distinct autosomal dominant multisystem lipodystrophy disorder, MDPL (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM # 615381), most commonly a recurrent in-frame deletion of serine at position 604, accounting for 18 of the 21 reported cases of this condition.
View Article and Find Full Text PDFOrphanet J Rare Dis
October 2021
Background: Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Nevertheless, the quality of life in adolescence and the phonatory and morphological outcomes are rarely analysed.
View Article and Find Full Text PDFSemin Fetal Neonatal Med
December 2021
Treatment of infants with craniofacial malformations, e.g. Robin sequence, is characterized by considerable heterogeneity and a lack of randomized trials to identify an optimal approach.
View Article and Find Full Text PDFEnteral nutrition (EN) allows adequate nutritional intake in children for whom oral intake is impossible, insufficient or unsafe. With maturation and health improvements, most children ameliorate oral skills and become able to eat orally, therefore weaning from EN becomes a therapeutic goal. No recommendations currently exist on tube weaning, and practices vary widely between centres.
View Article and Find Full Text PDFStudy Objectives: Identifying optimal treatment for infants with Robin sequence (RS) is challenging due to substantial variability in the presentation of upper airway obstruction (UAO) in this population. Objective assessments of UAO and treatments are not standardized. A systematic review of objective measures of UAO was conducted as a step toward evidence-based clinical decision-making for RS.
View Article and Find Full Text PDFANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo heterozygous ANKRD17 variants. The mutational spectrum of this cohort of 34 individuals from 32 families is highly suggestive of haploinsufficiency as the underlying mechanism of disease, with 21 truncating or essential splice site variants, 9 missense variants, 1 in-frame insertion-deletion, and 1 microdeletion (1.
View Article and Find Full Text PDFIn order to optimize the care of young hospitalized children with eating disorders, the Orality group at the Necker-Enfants malades University Hospital in Paris has created a therapeutic education tool: the Fleur des sens. This flower which is to be colored at the end of the meal with the child has nine petals representing nine foods that make up the meal, which were initially difficult or even impossible for the young patient to eat. This tool participates in the educational diagnosis and then in the formative evaluation of the child.
View Article and Find Full Text PDFJ Pediatr Ophthalmol Strabismus
March 2020
Purpose: To evaluate functional vision in patients with CHARGE syndrome (coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies, and ear anomalies) by using a new questionnaire entitled VISIOCHARGE.
Methods: Ophthalmological data including fundus description and visual acuity, when available, were extracted from the charts of 83 patients with CHARGE syndrome, and the VISIOCHARGE questionnaire was prospectively mailed to 55 of those patients. The answers from the 36 responders (18 males) allowed for the calculation of three scores that assessed distance vision, near vision, and overall ability scores.
We report 3 cases of scurvy in children that occurred during a short period (2018) in a general pediatrics unit of a tertiary hospital for children in Paris. All children were around 3 years of age and were admitted for skeletal pain and altered general state, which mimicked infectious or malignant diseases. Their selective diet was not the prominent issue.
View Article and Find Full Text PDFPierre Robin sequence (PRS) may lead to life-threatening respiratory and feeding disorders. With the aim to analyse the association of the severities of retrognathia and glossoptosis with those of respiratory and feeding disorders, we retrospectively studied a series of 50 infants with retrognathia, glossoptosis, cleft palate, and airway obstruction. The patients were managed from birth to at least 6 years of age by a single pediatric team at the Armand Trousseau Hospital in Paris within a 12 years period (2000-2012).
View Article and Find Full Text PDFObjective: To describe a series of children who were hospitalized for a tube-weaning program in the general pediatric ward of a pediatric tertiary university hospital: describe our method, to determine the success rate of our inpatient pediatric tube weaning program, and search for relevant factors linked to its success or failure.
Method: We analyzed the medical files of consecutive children who were hospitalized for gastric-tube weaning over an 8-year period. We analyzed outcomes in terms of feeding and growth with at least 2 years of data.
Am J Med Genet C Semin Med Genet
December 2017
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like (MED13L) in one patient prompted the investigation of copy number variants in MED13L in the other, leading to the identification of an intragenic deletion.
View Article and Find Full Text PDFThere are many differences between the hair from children and that of adult subjects, the hair being thinner, more porous with a different growth rate from the usual 1 cm/month observed in adults. In order to determine whether hair analysis could discriminate between chronic use and acute administration of a drug in children like in adults, we analyzed hair from 18 children aged between 1 day and 15 years in whom the administration of different drugs was known (single therapeutic administration or acute intoxication). A strand of hair was sampled within 1 to 45 days after treatment or intoxication.
View Article and Find Full Text PDFObjectives: To analyze the efficiency of prenatal diagnosis of Pierre Robin sequence (PRS) regarding the final specific diagnosis and to determine whether infants have more severe respiratory disorders with than without prenatally suspected PRS.
Methods: Review of the outcome of all prenatal cases of suspected PRS managed in our prenatal diagnosis center during the last 15 years; analysis of the consistency between prenatal and postnatal diagnoses in 2 groups of women with and without a family history of PRS; comparison of the grades of disease severity for infants with and without prenatally suspected PRS.
Results: Fifty-nine files were studied.
To support children and their families with weaning off artificial nutrition, a psychomotor therapist and speech therapist from the 'Pierre Robin syndrome and congenital sucking-swallowing disorders' specialist rare disease centre at Necker-Enfant Malades hospital in Paris, have set up a joint consultation, as a complement to medical consultations. This programme shows how speech therapy and psychomotor education can complement each other in order to help children and their parents during this difficult period.
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