De « Riquet à la Houppe » dans les réécritures contemporaines Un éclairage sociopoétique

To illustrate his theoretical presentation of sociopoetics, Alain Montandon uses the rewriting of traditional tales in contemporary times. Pascale Auraix-Jonchière reminds us that many tales, and long before the term was in use, present characters that can be described as ‘disabled’. We propose to focus on the main character of ‘Riquet à la houppe’, stigmatised, despite his high-ranking birth, by an accumulation of infirmities. After having enjoyed undeniable success from the 17th to the 19th century, this little-known tale is rarely published today. We wish to examine this rarity in some reformulations, including iconographic ones. To observe these variations, in which disability echoes social representations, we will study the trio of characters in the tale: not only the eponymous hunchbacked, lame and ugly hero, but also the two sisters who are also ‘disabled’, one ugly and witty, like Riquet, the other with a beauty that struggles to compensate for her mental and intellectual deficit. How are these characters represented in contemporary production? How are their handicaps socially considered when ‘the tyranny of appearances’ (Amadieu, 2002) or the influence of feminist currents incite to renew the look on this tale?

Gray matter heterotopia: clinical and neuroimaging report on 22 children

Objective To investigate the clinical characteristics and neuroimaging features of childhood presenting with gray matter heterotopia observed in a single tertiary Pediatric Department in Catania and compare the data with those reported in the literature. Methods A retrospectively review of the history, clinical findings, electrophysiological features and magnetic resonance images of 22 children presenting with gray matter heterotopia observed from January 2010 to January 2020. Results Among the 22 children included in the study, 17 presented with periventricular heterotopia (PVNH), two with Subcortical Band Heterotopia (SBH), and three with other subcortical heterotopia (SUBH). In the affected children, the ages at first diagnosis ranged from 3 months to 16 years with a mean age of 8.2 years (± 5.4); twelve (54.5%) suffered by developmental delay and intellectual deficit; eleven children (50%) complained of epileptic seizures, mostly focal to bilateral tonic–clonic seizure. In addition, in the periventricular heterotopia group (PVNH), cerebral and systemic malformations were reported in twelve (70%) and in ten (58%) children, respectively, out of seventeen. In the SBH plus SUBH group, epileptic seizures were recorded in 3 (60%) out of 5 children, cerebral malformations in one child and systemic malformations in two children. Conclusions Heterotopic gray matter malformations include a group of disorders that manifest with a variety of neurological implications, such as cognitive impairment and epilepsy, and often related with epilepsy, other cerebral malformations and systemic anomalies.

AN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROMEAN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROME

Jacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications. Jacobsen syndrome is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from 07 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q 23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis.

Primary Carnitine Deficiency and Autism Spectrum Disorder is there a Relationship?

Carnitine plays essential role in energy metabolism .Systemic primary carnitine deficiency is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. The decrease carnitine results in impaired fatty acid oxidation. Primary carnitine deficiency presents a hypoketotic, hypoglycemia and hepatic encephalopathy. Recently, primary carnitine deficiency has been associated with neurodevelopmental disorders including autism spectrum disorders. A seven year-old schoolgirl with intellectual deficit, autistic features and primary carnitine deficiency has been reported. A significant decrease in carnitine levels has been shown in patients with autism and this has been related to the existence of a mitochondrial disease and more severe autism. The early identification of patients with low levels of carnitine or primary carnitine deficiency, with the different methods of measuring free carnitine, including tandem mass spectrometry could help to identify these patients early and achieve an early treatment and better neurological prognosis, because autism spectrum disorders may be preventable in this subgroup. We hope that this paper is useful to neurologists and pediatricians, and may give them more reason to suspect a diagnosis of PCD and autism.

Duchenne muscular dystrophy in a female with x-autosome translocation

Duchenne’s muscular dystrophy is the most common hereditary neuromuscular disease, which affects all races. Its classical characteristic clinical features being progressive muscular weakness, intellectual impairment and hypertrophy of the calves with proliferation of connective tissue and progressive fibrosis in muscles. As the disease is inherited as an X-linked recessive trait, thus females not manifesting the disease and acting as carriers only, as second X chromosome prevents the manifestation of disease. We report a case of classical Duchenne muscular dystrophy in 10 year old female with no intellectual deficit and no family history of similar type of muscular dystrophy.

Clinical-phenomenological structure and age-related features of the course of the disease in adolescence with mild mental retardation

Among the forms of mental pathology that are found in childhood, a special place is occupied by mental retardation, which makes a significant contribution to the rates of morbidity and disability. In order to establish the patterns of the clinical-phenomenological structure and age-specific course of the disease in adolescence with mild mental retardation, on the basis of the Kryvyi Rih neuropsychiatric dispensary, a two-stage clinical-epidemiological, clinical-psychopathological and psychodiagnostic study of 154 people born in 2003—2008 with mild mental disorders was carried out. According to the results of the study, it was found that the presence of mental retardation in most cases was diagnosed in the period of 7—10 years (29.8 % of cases), and in almost a third of all examined (29 %) this diagnosis was combined with concomitant psychiatric, neurological or somatic pathology, which just led to a deterioration in the general course of the disease. In 63 % cases there was a burdened family history, in 81 % — obstetric. In addition, a direct correlation (r = 0.498) was found between the level of development of social skills and the preservation of the intellectual level. Thus, it is possible to identify risk factors for the occurrence of mild mental retardation: male sex, family history (primarily addiction states), parents’ age over 30, their low educational level, pathological period of pregnancy and delayed psychomotor development in the first year of life. The level of social adaptation of patients depends on the depth of the intellectual deficit, long-term treatment and rehabilitation interventions, psycho-educational activities for parents and relatives, the organization of assistance in finding a job and medical support can increase the level of social adaptation of this contingent.

Clinical management of patients with genetic obesity during COVID-19 pandemic: position paper of the ESE Growth & Genetic Obesity COVID-19 Study Group and Rare Endo-ERN main thematic group on Growth and Obesity

This article aims to provide guidance on prevention and treatment of COVID-19 in patients with genetic obesity. Key principals of the management of patients with genetic obesity during COVID-19 pandemic for patients that have contracted COVID-19 are to be aware of: possible adrenal insufficiency (e.g., POMC deficiency, PWS); a more severe course in patients with concomitant immunodeficiency (e.g., LEP and LEPR deficiency), although defective leptin signalling could also be protective against the pro-inflammatory phenotype of COVID-19; disease severity being masked by insufficient awareness of symptoms in syndromic obesity patients with intellectual deficit (in particular PWS); to adjust medication dose to increased body size, preferably use dosing in m2; the high risk of malnutrition in patients with Sars-Cov2 infection, even in case of obesity. Key principals of the obesity management during the pandemic are to strive for optimal obesity management and a healthy lifestyle within the possibilities of the regulations to prevent weight (re)gain and to address anxiety within consultations, since prevalence of anxiety for COVID-19 is underestimated.

Report of a family affected by fragile X syndrome and type 1 diabetes mellitus

Context: The fragile X syndrome is characterized by intellectual deficit and some physical characteristics, which become more evident during growth, especially craniofacial and macroorchidism. Case report: A 22 year-old male patient with diabetes mellitus type 1 (DM1) diagnosed at 7 years of age is following-up with ophthalmology due to low visual acuity. On physical exam, he did not maintain eye contact and performed repetitive movements. In addition, he had an elongated face and upward slanting eyelid clefts, a high palate and prognathism, large and prominent ears. In the family history, 3 of his siblings, one male and two female, also had intellectual deficit, and two of them had concomitant DM1. One brother had only DM1 and the other none of the diseases. The parents had consanguinity (they were cousins in the 3rd degree). The patient’s karyotype, using the chromosomal breaks technique after cultivation in medium-low folic acid, showed the presence of fragility on the X chromosome in the region q27.3 [46, XY, fra (x) (q27.3)], compatible with the diagnosis of fragile X syndrome. This result was confirmed using the PCR-multiplex technique. Conclusions: In this family, the concomitant presence in several individuals of the fragile X syndrome and DM1 stands out. However, although both conditions are not related, they are frequent, which could justify their simultaneous occurrence.

Clinical and cognitive characteristics of Angelman syndrome

Introduction. Angelman syndrome, as a rare genetic and neurodevelopmental disorder characterized by severe intellectual deficit and falling behind in psychomotor development, represents a challenge for adequate and correct creation of individual (rehabilitation procedure. More precise determination of cognitive and speech profile is difficult due to integrative hypermotor behavior and attention and speech deficits. Objective. The aim of this paper was to analyze and summarize empirical data on clinical, cognitive and speech characteristics of Angelman syndrome. Methods. A systematic review of the literature published in peer-reviewed publications, from 2001 to June 5, 2021, was performed by searching electronic databases available through the service of the Serbian Library Consortium for Coordinated Acquisition - KOBSON. A "hand search" (Research Gate and Google Scholar) was also used. Results. The analyzed results of the research indicate that the presence of sensorimotor schemes that represent cognitive structures of the earliest childhood is characteristic for Angelman syndrome. Receptive speech skills are more developed than expressive ones, which usually do not exist. Supportive therapy, which includes interventions in early childhood, speech therapy and occupational programs, is very important for treatment within this clinical picture. Conclusion. It is necessary to improve the process of assessing cognitive and speech skills due to the targeted creation of an individual cognitive-speech developmental profile. It is also crucial to identify urgent areas that require treatment and in which individual and family support should be provided.

P1803EFFICACY, SAFETY AND IMPACT ON RENAL FUNCTIONALITY OF ACETAZOLAMIDE TREATMENT IN PATIENTS WITH PMM2-CDG (AZATAX CLINICAL TRIAL)

Background and Aims Deficit of phosphomanomutase-(PMM2-CDG) is the most frequent congenital N-glycosylation defect, producing cerebellar syndrome with intellectual deficit and “stroke-like” episodes. It has been associated with renal alterations such as proteinuria, diffuse cortical hyperechogenicity and malformations. We evaluated efficacy, safety and renal repercussion of acetazolamide as a new therapeutic tool. Method First clinical trial in phase II including PMM2-CDG patients (5-21-years). First phase: 6 months treatment group with acetazolamide. Second phase: 5 weeks randomized withdrawal in responders (acetazolamide vs placebo), assessing renal functionality and effects of this medication. Dosing acetazolamide by 8 to 30mg/kg/day in 2-3 doses. Controls were performed at 3, 6, 14, 25 and 30 weeks determining acid-base balance, ionogram, renal function (creatinine) and Pr/Cr, Ca/Cr index and B2-microglobulin in first morning urine. All patients underwent in a bone densitometry study and renal ultrasound. Results 24 patients were included (mean age 12.3 ± 4.5 years). Bicarbonate levels and plasma pH were significantly lower at week 25(p <0.001). 13 patient needs to reduce acetazolamide dose due to excessive metabolic acidosis or asthenia. They showed a decrease in sodium (p=0.06), potassium (p<0.001) and serum calcium(p=0.030), although maintained in low normality limit with a decrease in protein loss(p=0.019) and increase in calcium/creatinine index(p=0.025) without B2-microglobulin alterations. The previously ultrasound renal described findings; the cortical hyperechogenicity was observed in 8.4% without renal dysfunction or associated nephrocalcinosis. One patient presented microlithiasis and another, symptomatic renal lithiasis. Densitometric study 69% of patients presented values in the range of osteopenia at the end of trial (-0.9 to -4.9SD, average of -2.36SD). Conclusion The efficacy of acetazolamide in the neurological symptoms of PMM2-CDG, due to an enzymatic stimulation mechanism mediated by acidosis, generates the possibility of chronic treatment with the drug in this group of patients, with possible renal adverse effects associated with long-term, overshadowing the skeletal and renal prognosis.