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Le développement lexical est un des domaines langagiers les moins abordés dans le cadre de la déficience intellectuelle. Les banques de données PubMed et Scopus permettent de recenser environ 13 000 publications scientifiques revues par les pairs consacrées au développement langagier en général des personnes présentant une déficience intellectuelle pour 20 fois moins de résultats sur le thème du développement lexical. Les études analysées dans cet article renvoient à deux champs de recherches distincts : (1) l'étude comparative des trajectoires développementales des enfants présentant une déficience syndromique et des enfants neurotypiques et (2) la description du contenu référentiel du lexique et du processus d'apprentissage lexical. Le premier axe de recherche a permis de décrire l'allure générale de la trajectoire d'acquisition lexicale des enfants présentant une déficience intellectuelle ; trajectoire marquée par une explosion lexicale plus tardive et moins importante que chez l'enfant neurotypique. L'influence respective de l'âge mental et de l'âge chronologique (ou l'expérience de vie) dans le développemental lexical y est également discutée ; le premier étant impliqué dans le développement du versant tant expressif que réceptif du vocabulaire et le second impactant uniquement le versant réceptif. Le second axe de recherche a permis d'avancer des éléments d'explication au problème relevé dans la maîtrise de certains domaines du lexique (mots abstraits ou lexique relationnel) ; une interprétation de ces difficultés en termes de déficit des connaissances conceptuelles et donc de l'accès à la mémoire sémantique est généralement avancée. Cet axe de recherche reprend également les travaux sur l'utilisation des contraintes et des principes lexicaux chez les enfants présentant une déficience intellectuelle. Les conclusions de ces études soulignent des capacités de généralisation des nouveaux mots appris à de nouveaux exemplaires comparables à celles observées chez les enfants neurotypiques. La variabilité intersyndromique, et plus particulièrement une description détaillée des profils lexicaux spécifiques des personnes présentant une trisomie 21 et de celles porteuses d'un syndrome de Williams, traverse les deux axes de recherche cités et permet de dégager ce qui est propre à la déficience intellectuelle en général de ce qui est spécifique à un syndrome particulier. Beaucoup de questions restent cependant encore en suspens. Lexical development of children with intellectual disability has received poor attention in the scientific literature compared to general language development. PubMed and Scopus databases identify around 13,000 peer-reviewed scientific publications on general language development of people with intellectual disabilities and 20 times fewer results on lexical development. The studies analyzed in this article refer to two distinct fields of research: (1) the comparative study of children with disabilities and neurotypical children's developmental trajectories and (2) the description of the referential content of the lexicon and of the learning process. The first line of research describes the general shape of the lexical acquisition trajectory of children with intellectual disabilities; trajectory marked by a later and less important lexical explosion than the one observed in neurotypical children. It is also marked by the highlighting of the respective influence of mental age and chronological age (or life experience) in lexical development; the first being involved in the development of both the expressive and receptive side of the vocabulary and the second impacting only the receptive side. The second line of research gives elements of explanation for the problem identified in the mastery of complex areas of the lexicon (abstract words or relational vocabulary). These difficulties are often interpreted in terms of a deficit of conceptual knowledge and therefore of access to semantic memory. This line of research also describes the use of lexical constraints and principles in children with intellectual disabilities. The conclusions of these studies highlight abilities to generalize new words to new examples comparable to those observed in neurotypical children. The intersyndromic variability, more particularly the specific lexical profiles of people with trisomy 21 and those with Williams syndrome, crosses the two lines of research and makes it possible to identify what is specific to intellectual disability from what is specific to a particular syndrome. However, many questions still remain unanswered. [ABSTRACT FROM AUTHOR]

Wolfram syndrome (WFS) is a rare neurodegenerative disease. Clinical diagnosis is made when nonautoimmune insulin-dependent diabetes is found to be associated with bilateral optic atrophy in a patient early in life. Frequent associations include diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Many other multisystemic associations have been described including menstrual irregularities in female and hypogonadism in male patients. We present a first case of WFS associated with hypergonadotropic hypogonadism in a female adolescent diagnosed with WFS both clinically and genetically. Other causes of premature ovarian insufficiency (POI) have been excluded. This case report shows the importance of gonadal function assessment and follow-up in time for both genders. [ABSTRACT FROM AUTHOR]

Prematurity, low birth weight, genetic syndromes, extracardiac conditions, and secondary cardiac lesions are considered high-risk conditions associated with mortality after stage 1 palliation. We report the impact of these conditions on outcomes from a prospective multicenter improvement collaborative. The National Pediatric Cardiology Quality Improvement Collaborative Phase II registry was queried. Comorbid conditions were categorized and quantified to determine the cumulative burden of high-risk diagnoses on survival to the first birthday. Logistic regression was applied to evaluate factors associated with mortality. Of the 1421 participants, 40% (575) had at least 1 high-risk condition. The aggregate high-risk group had lower survival to the first birthday compared with standard risk (76.2% vs 88.1%, P <.001). Presence of a single high-risk diagnosis was not associated with reduced survival to the first birthday (odds ratio, 0.71; confidence interval, 0.49-1.02, P =.066). Incremental increases in high-risk diagnoses were associated with reduced survival to first birthday (odds ratio, 0.23; confidence interval, 0.15-0.36, P <.001) for 2 and 0.17 (confidence interval, 0.10-0.30, P <.001) for 3 to 5 high-risk diagnoses. Additional analysis that included prestage 1 palliation characteristics and stage 1 palliation perioperative variables identified multiple high-risk diagnoses, poststage 1 palliation extracorporeal membrane oxygenation support (odds ratio, 0.14; confidence interval, 0.10-0.22, P <.001), and cardiac reoperation (odds ratio, 0.66; confidence interval, 0.45-0.98, P =.037) to be associated with reduced survival odds to the first birthday. The presence of 1 high-risk diagnostic category was not associated with decreased survival at 1 year. Cumulative diagnoses across multiple high-risk diagnostic categories were associated with decreased odds of survival. Further patient accrual is needed to evaluate the impact of specific comorbid conditions within the broader high-risk categories. [Display omitted] [ABSTRACT FROM AUTHOR]

Phenotypic traits, such as red hair and freckling, increase melanoma risk by 2- to 3-fold. In addition, approximately 10% of melanomas are caused by inherited germline mutations that increase melanoma risk from 4- to >1000-fold. This review highlights the key genes responsible for inherited melanoma, with an emphasis on when a patient should undergo genetic testing. Many genetic syndromes associated with increased melanoma risk are also associated with an increased risk of other cancers. Identification of these high-risk patients is essential for preventive behavior reinforcement, genetic counseling, and ensuring other required cancer screenings. [ABSTRACT FROM AUTHOR]

Significant noncardiac and genetic abnormalities (NC and GA) are common in neonates with congenital heart defects. We sought to examine current-era effect of those abnormalities on early and late outcomes following cardiac surgery. The method from 2002-2012, 1538 neonates underwent repair (n = 860, 56%) or palliation (n = 678, 44%) of congenital heart defects. Regression models examined the effect of NC and GA on operative results, resource utilization, and late outcomes. Neonates with NC and GA (n = 312, 20%) had higher incidence of prematurity (21% vs 13%; P < 0.001) and weight ≤2.5kg (24% vs 12%; P < 0.001) than neonates without NC and GA (n = 1226, 80%). Although the incidence of single ventricle was comparable (34% vs 31%; P = 0.37), neonates with NC and GA underwent more palliation (52% vs 42%; P = 0.001) and subsequently had higher percentage of STAT mortality categories (Society of Thoracic Surgeons (STS) and the European Association for Cardio-thoracic Surgery (EACTS) Congenital Heart Surgery Mortality Categories) 4 and 5 procedures (78% vs 66%; P < 0.001). Adjusted logistic regression models that included disparate patient and operative variables showed that the presence of NC and GA was associated with increased unplanned reoperation (odds ratio = 1.7; 95% CI: 1.1-2.7; P = 0.03) and hospital mortality (odds ratio = 2.2; 95% CI: 1.3-3.6; P = 0.002). Adjusted linear regression models showed significant association between NC and GA and increased postoperative mechanical ventilation duration, intensive care unit, and hospital stays (P < 0.001 each). Adjusted hazard analysis showed that the presence of NC and GA was associated with diminished late survival (hazard ratio = 2.4; 95% CI: 1.9-3.1; P < 0.001) and that was evident in all subgroups of patients (P < 0.001 each). Conclusion is neonates with NC and GA commonly have associated risk factors for morbidity and mortality such as prematurity and low weight. After adjusting for those factors, the presence of NC and GA continues to have significant association with increased unplanned reoperation, hospital mortality, and resource utilization after palliative and corrective cardiac surgery. Importantly, the hazard of death in those patients continues beyond the perioperative period for at least 1 year. Our findings show that the presence of NC and GA should be emphasized during parent counseling and decision making; and underscore the need to explore strategies to improve outcomes for this high-risk population that must address perioperative care, outpatient surveillance, and management. [ABSTRACT FROM AUTHOR]

Malignant adnexal tumours of the skin are a group of rare malignancies. These tumours can further differentiate into eccrine, apocrine, sebaceous, sweat duct, or ceruminous glands within the skin or follicular cells. Sebaceous carcinoma, a malignant adnexal tumour of the skin, is a rare and malignant tumour of the sebaceous glands. They can occur anywhere in the body where sebaceous glands are present, the most common being the head and neck region. Here we report a case of a 72-year-old man who presented with a bleeding ulcer on the distal right thumb, which was progressively increasing in size. Biopsy and histology confirmed the diagnosis of MATS with sebaceous differentiation. He had been diagnosed with metastatic non-small cell lung carcinoma six months back. SC is a rare and unusual tumour amounting to less than 1% of all cutaneous malignancies. Phalanges are an infrequent extra-ocular site of involvement, and initial presentation can be mistaken for a benign occurrence. Any patient presenting with extra-ocular SC is advised to undergo genetic and immunohistochemistry testing to rule out complex genetic syndromes like Muir Torre syndrome and Cowden syndrome. • Ulcerating proliferative lesion on the distal phalanx of the right thumb in 72-year-old man with primary non-small cell lung malignancy. • Malignant adnexal tumor of the skin (MATS), a rare group of malignancies, are a diagnostic challenge for both surgeons and pathologist • Sebaceous carcinoma, an aggressive tumor, account for approximately 1% of all skin malignancies • Extra-ocular sebaceous carcinoma warrants investigations for complex genetic syndromes such as Muir Torre and Cowden syndrome. • Surgery is the main treatment modality. Depending on location of the tumor, wide local excision, Mohs micrographic surgery or CCPDMA can be done. [ABSTRACT FROM AUTHOR]

The article discusses the possible persistence of childhood obesity in adulthood through a component of genetic syndromes related with dysmorphic features and abnormal development. It is stated that identification has been made on genetic pathways leading to syndrome phenotype and obesity including the Bardet-Biedl syndrome which may be caused by dysfunction of the primary cilium. The clinical and genetic properties knowledge as of 2009 is also summarized.

Abstract: Inguinal hernia is associated with a multitude of genetic syndromes. Disorders of the microfibril, elastin, collagen, and the glycosaminoglycan component of the extracellular matrix can result in an increase in the likelihood of inguinal hernia. In addition, inguinal hernia may be the presenting feature of disorders of sexual differentiation. Inguinal hernia of unknown etiology also occurs more commonly in several other groups of genetic diseases including chromosomal disorders, microdeletion disorders such as 22q11.2 microdeletion, and in single gene disorders. We review the genetics of connective tissue formation and focus on a series of genetic conditions that may present with or are characterized by a higher risk of inguinal hernia. A comprehensive review of the literature aims to provide a diagnostic framework to aid in the identification of patients with inguinal hernia as part of underlying genetic disease. [Copyright &y& Elsevier]

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Summary: Renal anomalies are frequently detected on the routine second trimester scan offered to all pregnant women in the UK. These anomalies may be isolated but can also be associated with other congenital anomalies. Many combinations of ultrasound scan findings constitute recognised genetic entities. Knowledge of these conditions is essential for adequate management of the pregnancy and subsequent balanced parental counselling. This short review discusses the common genetic syndromes associated with the renal abnormalities identified on the antenatal ultrasound scan, and also provides an overview of renal symptoms in chromosome imbalances and after teratogenic influences. [Copyright &y& Elsevier]

Congenital diaphragmatic hernia (CDH) is a common structural birth defect that affects approximately 1 in 2500 live births. Although the exact etiology of most cases of CDH remains unknown, it is becoming increasingly clear that genetic factors play an important role in many cases of CDH. In this paper, we review critical findings in the areas of clinical and basic research that highlight the importance of genetics in the development of CDH. We also provide practical information that can aid physicians and surgeons as they evaluate and care for patients with isolated, nonisolated, and syndromic forms of CDH and their families. [Copyright &y& Elsevier]