Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

Down syndrome (DS) is a genetic neurodevelopmental disorder. In individuals with DS, a multidisciplinary approach to care is required to prevent multiple medical complications. The aim of this study was to describe the rehabilitation, medical care, and educational and social support provided to school-aged French DS patients with varying neuropsychological profiles. A mixed study was conducted. Quantitative data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Qualitative data were collected by semi-structured face-to-face interviews and focus groups. Ninety-five DS subjects with a mean age of 10.9 years were included. Sixty-six per cent had a moderate intellectual disability (ID) and 18.9% had a severe ID. Medical supervision was generally multidisciplinary but access to medical specialists was often difficult. In terms of education, 94% of children under the age of six were in typical classes. After the age of 15, 75% were in medico-social institutions. Analysis of multidisciplinary rehabilitation conducted in the public and private sectors revealed failure to access physiotherapy, psychomotor therapy and occupational therapy, but not speech therapy. The main barrier encountered by patients was the difficulty accessing appropriate facilities due to a lack of space and long waiting lists. In conclusion, children and adolescents with DS generally received appropriate care. Though the management of children with DS has been improved considerably, access to health facilities remains inadequate.

[Respecting patient's end of life wishes: feasibility study of an information on surrogate and advance directives]. / Respect des volontés en fin de vie : étude de faisabilité d'une information sur la personne de confiance et les directives anticipées.

This prospective interventional study aims to show the feasibility and impact of information procedure on surrogate and advance directives (AD), for patients with incurable lung or gastrointestinal cancer. The intervention consisted of two semi-structured interviews. The first included: collection of preferences for prognostic information and involvement in decision-making, initial assessment of knowledge, information and surrogate and DA. The second assessed the impact of the first interview on knowledge, surrogate designation and DA writing, the assessment procedure by the patient and assessment of anxiety generated. Among 77 eligible patients, 23 (30 %) were included, 6/29 (21 %) refused to participate, 20/23 (87 %) completed both interviews. Patients not included had a higher 4-month death rate than included ones (39 % vs. 4 %, P=0.002). Patients included had high expectations of information and appreciated it be delivered early, by someone not involved in their care. The study shows the feasibility of the procedure and its impact on the use of surrogate and DA by patients, however, revealing the complexity of approaching end-of-life wills and the importance of a process of anticipated discussion.

Spontaneous ovarian hyperstimulation syndrome and pituitary hyperplasia mimicking macroadenoma associated with primary hypothyroidism.

We report an unusual case of spontaneous ovarian hyperstimulation syndrome and pituitary hyperplasia mimicking macroadenoma in an adult, non-pregnant woman. Her condition was triggered by unrecognized primary hypothyroidism, which regressed after thyroid hormone replacement therapy. This case highlights the need for clinicians and radiologists to familiarize themselves with the clinical and imaging features detected in case of these complications of primary hypothyroidism, which are not well known in the medical and radiological profession. Such improved knowledge will help avoid delays in diagnosis, progression to life-threatening complications, and unnecessary surgery.

Comparisons of audio and audiovisual measures of stuttering frequency and severity in preschool-age children.

PURPOSE: To determine whether measures of stuttering frequency and measures of overall stuttering severity in preschoolers differ when made from audio-only recordings compared with audiovisual recordings. METHOD: Four blinded speech-language pathologists who had extensive experience with preschoolers who stutter measured stuttering frequency and rated overall severity from audio-only and audiovisual recordings of 36 preschool children who were stuttering. Stuttering frequency (percentage of syllables stuttered [%SS]) was based on counts of perceptually unambiguous stutterings, made in real time, and overall severity was measured using a 9-point rating scale. RESULTS: Stuttering frequency was statistically significantly lower by around 20% when made from audio-only recordings. This was found to be directly attributable to differences in the counts of stuttered syllables, rather than to differences in the total numbers of syllables spoken. No significant differences were found between recording modalities for the ratings of overall severity. Correlations between %SS scores in the 2 modalities and severity rating scores in the 2 modalities were high, indicating that observers agreed on data trends across speech samples. CONCLUSIONS: Measures of %SS made from audio-only recordings may underestimate stuttering frequency in preschoolers. Although audio-only %SS measures may underestimate stuttering frequency at the start of a clinical trial to a clinically significant extent, posttreatment scores at or below 1.0%SS are likely to underestimate by 0.2%SS or less, which is clinically insignificant.

[Can children visit their relatives in an adult ICU?]. / Les enfants peuvent-ils venir visiter leurs parents hospitalisés en réanimation oncohématologique?

For the last three years, our oncology ICU (intensive care unit) has been opened to visiting children between 0 and 18 years. Our objective was to attempt to decrease the psychological burden in critically ill cancer patients and their children. We report here the evaluation of this new policy. Encouraged by the child psychologists in our hospital, we first recorded the opinions of the nursing staff, patients and relatives about this innovative approach. As our preliminary findings were favourable, a liberalised greeting and education policy for visiting children was implemented. A dedicated procedure was followed in order to provide children with a better understanding of their parent's disease, to alleviate any traumatic experience the visit might cause and to create an environment where mutual confidence would reign. After 2 years, each visiting child, patient, accompanying parent and the nursing staff were directly questioned using a specifically designed questionnaire. The daily lives of the staff, children, families and patients themselves appeared to be dramatically improved, even in the most difficult medical situations. Based on these promising results, the new policy has definitively been adopted in our unit. We propose that children ought to be allowed to visit a parent in the ICU and that this policy warrants evaluation in other types of units.

An investigation of language and phonological development and the responsiveness of preschool age children to the Lidcombe Program.

UNLABELLED: Knowledge of variables that predict treatment time is of benefit in deciding when to start treatment for early stuttering. To date, the only variable clearly related to treatment time with the Lidcombe Program is pre-treatment stuttering frequency. Previous studies have shown that children whose stuttering is more severe take longer to complete Stage 1 of the program. However, studies to date have not investigated phonology and language as predictors of treatment time. In the context of a Phase II clinical trial, the present prospective study showed that phonological development does not predict treatment time but that, together, stuttering severity, MLU and CELF Receptive Score predict 35-45% of the variance for time taken to complete Stage 1. LEARNING OUTCOMES: The reader should be able to (1) understand guidelines developed for the timing of intervention with the Lidcombe Program based on previous retrospective studies, (2) determine whether pre-treatment language and phonological development play a role in treatment-led recovery with the Lidcombe Program and (3) understand recent empirical evidence on time taken by preschool children to complete Stage 1 of the Lidcombe Program.