Abusive head trauma, healthcare, and childhood professionals' lack of knowledge is detrimental to the child's interest.

OBJECTIVE: To assess the knowledge of professionals on abusive head trauma (AHT) and shaking so as to adapt their training and thus promote the improvement of AHT screening and prevention. METHOD: A questionnaire was developed on the knowledge of the intensity of movement, the frequency of repetition, the existence and progression of sequelae over time, the legal nature of AHT as a criminal offence leading to the possibility of compensation, and the existence of HAS (French National Authority for Health) recommendations on shaken baby diagnosis and legal consequences. RESULTS: Over a 4-year period 311 physicians, 123 magistrates, and 644 early childhood professionals responded to the questionnaire as an introduction to a course on AHT. Whatever the professional field, incorrect answers (wrong or "I don't know") were frequent as to the possibility that play could induce AHT lesions (51-58%), the violence of the act (43-52%), the repetition of shaking (58-82.5%), the presence of side effects (52-58%), and the existence of recommendations to professionals (48-58.5%). Twenty to 47% of physicians and early childhood professionals were unaware that shaking a baby was a criminal offence and 20-27% were unaware that AHT required a report to the judicial authorities. DISCUSSION/CONCLUSION: This lack of knowledge about AHT is detrimental to the child. The improvement of initial and continuing education is necessary to help reduce the dysfunctions existing in the care of child victims of AHT.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

BACKGROUND: In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary "Genome Clinic Task Force" at the University Hospitals of Geneva, which is composed of clinical and molecular geneticists, bioinformaticians, technicians, bioethicists, and a coordinator. METHODS AND RESULTS: We have implemented whole exome sequencing (WES) with subsequent targeted bioinformatics analysis of gene lists for specific disorders. Clinical cases of heterogeneous Mendelian disorders that could potentially benefit from HTS are presented and discussed during the sessions of the task force. Debate concerning the interpretation of identified variants and the content of the final report constitutes a major part of the task force's work. Furthermore, issues related to bioethics, genetic counseling, quality control, and reimbursement are also addressed. CONCLUSIONS: This multidisciplinary task force has enabled us to create a platform for regular exchanges between all involved experts in order to deal with the multiple complex issues related to HTS in clinical practice and to continuously improve the diagnostic use of HTS. In addition, this task force was instrumental to formally approve the reimbursement of HTS for molecular diagnosis of Mendelian disorders in Switzerland.

[Outcome after a shaken baby syndrome]. / « Le syndrome du bébé secoué : les séquelles ? ¼

The Shaken Baby Syndrome (SBS) is a severe inflicted brain injury due to an adult violently shaking an infant. Diagnostic guidelines have been recently published by the "Haute Autorité de santé". The mortality rate after SBS is 21.6 % and the long-term outcome is good for only 8 to 36 % patients followed over more than 5 years. The aim of this article is to describe sequelae after a SBS, their mechanisms, prognostic factors and recommendations for a better long-term care of the patients.

A comprehensive model of care for rehabilitation of children with acquired brain injuries.

BACKGROUND: Acquired brain injury (ABI) is a leading cause of death and lifelong acquired disability in children and remains a significant public health issue. Deficits may only become fully apparent when developmental demands increase and once cognitive processes are expected to be fully developed. It is therefore necessary to provide organized long-term follow-up for children post ABI. Despite these recommendations, it has been shown that only a small proportion of children received specialized rehabilitation and adequate follow-up after ABI. AIMS: The aims are: (i) to describe a comprehensive model of care devoted to children with acquired brain injuries; and (ii) to provide descriptive data analysing the characteristics of children followed up, the type/amount of services provided and general outcomes. PROGRAMME DESCRIPTION: The programme features an in- and outpatient rehabilitation facility, where multidisciplinary rehabilitation and specialized schooling are provided. The ultimate goal of the programme is to promote each child's successful reintegration in school and in the community. Adequate preparation of discharge is essential, long-term follow-up is organized, and an outreach programme has been developed to deal with the complex delayed psychosocial issues. RESULTS: Overall outcome, as measured by the Glasgow Outcome Scale, improved dramatically between admission (3.3; SD = 0.45) and discharge (2.15; SD = 0.74). Most of the children were discharged home with an adequate personalized plan for ongoing rehabilitation and school adaptations. Analysis of the outreach programme underlines the more challenging issues arising in late adolescence-early adulthood. CONCLUSION: Given the specificities of childhood ABI, long-term specific care must be organized and co-ordinated, regardless of injury severity.

Long-term outcome of the shaken baby syndrome and medicolegal consequences: a case report.

INTRODUCTION: Studies of long-term outcome of the shaken baby syndrome (SBS) are scarce, but they usually indicate poor outcome. OBJECTIVES: To describe long-term outcome of a child having sustained a SBS, to ascertain possible delayed sequelae and to discuss medicolegal issues. METHODS: We report a single case study of a child having sustained a SBS, illustrating the initial clinical features, the neurological, cognitive and behavioural outcomes as well as her social integration. RESULTS: The child sustained diffuse brain injuries, responsible for spastic right hemiplegia leading to secondary orthopaedic consequences, as well as severe cognitive impairment, worsening over time: the developmental quotient measured at 15 months of age was 55 and worsened as age increased. At 6 years and 8 months, the child's IQ had fallen to 40. Behavioural disorders became apparent only after several months and precluded any social integration. The child eventually had to be placed in a specialised education centre at age 5. DISCUSSION AND CONCLUSION: The SBS has a very poor outcome and major long-standing sequelae are frequent. Cognitive or behavioural sequelae can become apparent only after a long sign-free interval, due to increasing demands placed on the child during development. This case report confirms severity of early brain lesions and necessity for an extended follow-up by a multi-disciplinary team. From a medicolegal point of view, signaling the child to legal authorities allows protection of the child, but also conditions later compensation if sequelae compromise autonomy.

[Childhood cerebral tumors: morbidity and follow-up into adulthood]. / Tumeurs cérébrales de l'enfant: morbidité et suivi à l'âge adulte.

This chapter presents guidelines for the follow-up of children with brain tumors, whether benign or malignant, in their transition to adulthood. The consequences of their disease and its treatment overlap greatly. The complications and long-term follow-up are detailed based on the specialists involved.

[The effectiveness of constraint-induced movement therapy for children with hemiplegia following acquired brain injury]. / Intérêt de la thérapie par contrainte induite chez l'enfant hémiplégique après lésion cérébrale acquise.

UNLABELLED: Constraint-induced movement therapy is a promising technique for improving upper limb function in adults with hemiplegia. It involves restraint of the non-involved limb and intensive movement practice with the paretic limb. Although the technique has been applied successfully to children with cerebral palsy, only two studies have used it in children with acquired brain injury. OBJECTIVE: To assess the feasibility and efficacy of constraint-induced movement therapy in children with acquired brain injury. METHODS: We used a single-subject experimental design in three children (aged five at the time of the intervention) with hemiplegia in the chronic phase following acquired brain injury. The intervention involved restraint of the unaffected arm with a Mayo Clinic elbow brace for seven hours a day in a hospital setting, together with three hours a day of physical and occupational therapy rehabilitation for five days a week for two weeks. The children were assessed twice at baseline and then once immediately post-treatment and again two months post-treatment. Assessment included a range of timed, quantitative measures of upper limb use, assessment of unilateral spatial neglect and qualitative assessment by therapists and parents in terms of activities of daily living. RESULTS: The three children completed the full protocol and improved significantly in all timed, quantitative tests of motor function. These improvements were partially maintained at two months. No improvement in unilateral spatial neglect was found in the paper-and-pencil tasks, although less spatial neglect was observed in activities of daily living such as eating and walking. CONCLUSION: Constraint-induced movement therapy appears to be both feasible and efficient in children with acquired brain injury.

[Standardization of the Children's Orientation and Amnesia Test, French version, to evaluate post-traumatic amnesia in children]. / Etalonnage de la version française du Children's Orientation and Amnesia Test (COAT-VF), questionnaire d'évaluation de l'amnésie post-traumatique chez l'enfant.

INTRODUCTION: The duration of post-traumatic amnesia (PTA), the period of altered memory that often follows traumatic brain injury (TBI), is a useful index of severity of TBI and a predictor of outcome after TBI. Yet, evaluating PTA in French-speaking brain-injured children is not standardized. OBJECTIVE: We aimed to translate into the French language and standardize the Children's Orientation and Amnesia Test (COAT), inspired by the Galveston Orientation and Amnesia Test (GOAT), which estimates PTA duration in adults. METHOD: Development of a French version of the COAT (COAT-VF) with 16 items: 7 of general orientation, 5 temporal orientation and 4 memory. Normative data were collected for 137 children aged 4, 6, 8 and 10 years who were attending school. RESULTS: Performance on the COAT-VF was influenced by age and sociocultural factors but not sex. CONCLUSION: The COAT-VF, short and simple to administer, allows for an accurate evaluation of PTA duration in French children.

[A multidisciplinary consultation for children with brain tumors]. / Une consultation multidisciplinaire pour les enfants traités pour une tumeur cérébrale.

UNLABELLED: School achievement of children with brain tumors is hampered by progressive neurologic and cognitive sequelae. To help the children and their family, we have created in 1997 a multidisciplinary consultation together with Necker's hospital. MATERIAL AND METHODS: The study describes the organization of the consultation and analyses the files of 69 children seen between September 2001 and June 2002. RESULTS AND CONCLUSION: The authors conclude that this consultation is an irreplaceable mean to coordinate the complex rehabilitation process of a child treated for a brain tumor.

[Emotions and situations of communication in children and adolescents with frontal cerebral lesions]. / L'analyse des émotions et des situations de communication chez des enfants et des adolescents lésés frontaux.

OBJECTIVE: Following cerebral lesions, especially right and frontal cerebral lesions, patients often have difficulties in social cognition. Emotional skills are often impaired. Adults with cerebral lesions have difficulty identifying facial emotional expressions and attributing emotions in situations of communication. However, few studies have involved children and adolescents with cerebral lesions. Our first goal was to determine whether the performance in emotional tasks of young patients with frontal cerebral lesions is as impaired as that of adults, and the second goal was to study the role of emotional cues in pragmatic aspects of language. METHOD: The study involved 7 children and adolescents with frontal cerebral lesions but no aphasia and 7 control subjects. We used two emotional tasks: one to assess the ability to identify facial emotional expressions, and one to assess the ability to attribute emotions in situations of communication. RESULTS: The control and experimental groups did not differ significantly in identifying and attributing emotions. A further analysis of responses revealed that the patients were more impaired than controls in attributing complex emotions. As well, the patients tended to produce more justifications based on irrelevant elements than the controls. CONCLUSION: Our first data have shown that the children and adolescents with frontal cerebral lesions retain the ability to analyse emotions in situations of communication but have subtle difficulty in analysing emotional cues in social situations.

[Multiresistant bacteria colonisation in rehabilitation units]. / Colonisation à bactéries multirésistantes en service de médecine physique et réadaptation.

The objective of this study was to evaluate the management of multiresistant bacteria infection in French rehabilitation units. We e-mailed a questionnaire to French rehabilitation practitioners asking them what they did and what they knew about multiresistant bacteria colonisation. Their answers are described and analysed. We received 60 answers representing most of the country's rehabilitation centers. Routine screening was rare, but multiresistant bacteria were often looked for when certain risk factors were present. Methicillin-resistant Staphylococcus aureus and multiresistant enterobacteria were the usual target germs. In general, respondents asked for evidence-based recommendations that are also applicable without too great a prejudice (for the rehabilitation as well as for the psychological state) for a patient hospitalised in a rehabilitation unit. The legal risks and the costs involved are also to be tested. Many questions lay unanswered, although the literature is rich in descriptions of this area. The opposition between the medical advice of isolation and the readaptation objectives of a rehabilitation unit are strong. This study aims to highlight the most important uncertainties so as to promote prospective studies and enlighten the legal authorities.

Spatial and motor neglect in children.

OBJECTIVE: To determine if unilateral spatial neglect can be found in very young children with acquired brain lesions. METHODS: A retrospective study was carried out over a 10-year period in a pediatric rehabilitation department specializing in acquired brain lesions. Twelve cases were selected involving children aged 7 months to 14 years. Neglect was assessed by behavior observation for all children and, depending on age, by drawing, copying, reading, writing, and arithmetic tasks. Seven patients underwent the experimental "Teddy Bear" cancellation task, specially adapted to children. RESULTS: All children exhibited spatial and motor neglect in daily activities. In addition, children who were over 2 years of age made lateralized omissions in paper and pencil tasks as well as in the "Teddy Bear" cancellation task. Nine of the 12 children exhibited left spatial and motor neglect, whereas the other three, all of whom were very young (under 4 years), exhibited right spatial neglect. In three cases, cortical lesions were restricted to one lobe, either the parietal, frontal, or temporal. In eight children, lesions extended over more than one lobe, and one child sustained only subcortical lesions. CONCLUSION: Unilateral spatial and motor neglect occurs even in very young children. Right spatial neglect described in very young children may be related to the development of hemispheric specialization.

[Recent progress in pediatric neurological rehabilitation]. / Quoi de neuf en rééducation neurologique infantile?

New challenges in rehabilitation for children with neurological diseases directly depend on advances made in medical research and on the quality of the environment. This is relevant to motor function as a whole, to new therapeutic avenues in spasticity, to global approaches in the evaluation of cognitive and learning disabilities, as well as curative perspectives in neuromuscular disease. Networking with the family and other actors in the environmental field is essential to achieve a better social integration. A true collaboration between physicians and pediatricians is necessary to work toward more progress.

[Unilateral spatial and motor neglect in children]. / Négligence spatiale unilatérale et motrice chez l'enfant.

Although unilateral spatial neglect is well documented in adults after a cerebral damage, the description in children is rare and no motor neglect has yet been reported. We report four children age range from three to thirteen years old, in patients in a rehabilitation department. A cancellation task "the Teddy bear test" was used to assess spatial neglect in children. The children were presented a page containing line drawings of usual objects, including fifteen Teddy bears. The children were asked to cross out each Teddy bear. These four children omitted five to eleven teddy bears located on the left space, whereas children of the controlled group never omitted more than one Teddy bear. The four children also exhibited neglect in drawings, and during daily life activities. Moreover, one of them had a motor neglect with no more defects of strength and an under-utilization of his left side. Spatial unilateral neglect and motor neglect should be systematically investigated in children after a cerebral damage, and should be considered during rehabilitation.

IPM-FISH, a new M-FISH approach using IRS-PCR painting probes: application to the analysis of seven human prostate cell lines.

We have developed an alternative multicolor karyotyping technique based on multiplex fluorescence in situ hybridization (M-FISH) and our own optical device with a specific filter set. The most innovative part of our development is the use of interspersed polymerase chain reaction (IRS-PCR) painting probes that show an R-band pattern simultaneous to the combinatorial labeling. This allows us not only to recognize the origin of chromosomal fragments, but to identify the breakpoints as well. We have used this technique to analyze seven cell lines: four prostate cancer cell lines (CA-HPV-10, LNCaP, DU145, and PC3), and three normal transformed epithelial prostate cell lines (PNT1B, PNT2, and PZ-HPV-7). In order to validate our IRS-PCR multiplex FISH (IPM-FISH) technique and to complement the results, we applied comparative genomic hybridization (CGH) and FISH analysis, showing good correlation with the IPM-FISH results. To date, molecular and cytogenetic studies have identified several chromosomal regions that are altered in human prostate cancer; several candidate genes have been suggested. However, reliable markers for predicting the aggressiveness of early prostate cancer are not yet available. Our results show several common, unbalanced rearrangements in the cell lines. These rearrangements are similar to regions already implicated in prostate cancer, validating these cell lines as a good model system.