Health care management adequacy among French persons with severe profound intellectual and multiple disabilities: a longitudinal study.

BACKGROUND: The care organization of persons with profound intellectual and multiple disabilities (PIMD) varies by country according to the health care system. This study used a large sample of French individuals with severe PIMD/polyhandicap to assess: 1) the adequacy of care setting over a 5-year period and 2) health care consumption. METHODS: The longitudinal study used data from the French EVALuation PoLyHandicap (EVAL-PLH) cohort of persons with severe PIMD/polyhandicap who were receiving managed in specialized care centres and residential facilities. Two assessments were performed: wave 1 (T1) in 2015-2016 and wave 2 (T2) in 2020-2021. The inclusion criteria were as follows: age > 3 years at the time of inclusion; age at onset of cerebral lesion younger than 3 years old; and severe PIMD. The adequacy of the care setting was based on the following: i) objective indicators, i.e., adequacy for age and adequacy for health status severity; ii) subjective indicators, i.e., self-perception of the referring physician about medical care adequacy and educational care adequacy. Health care consumption was assessed based on medical and paramedical care. RESULTS: Among the 492 persons assessed at the 2 times, 50% of individuals at T1 and 46% of individuals at T2 were in an inadequate care setting based on age and severity. Regarding global subjective inadequacy, the combination of medical adequacy and educational adequacy, 7% of individuals at T1 and 13% of individuals at T2 were in an inadequate care setting. At T2, a majority of individuals were undermonitored by medical care providers (general practitioners, physical medicine rehabilitation physicians, neurologists, orthopaedists, etc.). Important gaps were found between performed and prescribed sessions of various paramedical care (physiotherapy, occupational therapy, psychomotor therapy, etc.). CONCLUSIONS: This study revealed key elements of inadequate care management for persons with severe PIMD/polyhandicap in France. Based on these important findings, healthcare workers, familial caregivers, patients experts, and health decision-makers should develop appropriate care organizations to optimize the global care management of these individuals. TRIAL REGISTRATION: NCT02400528, registered 27/03/2015.

Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study.

INTRODUCTION: Parents of persons with profound intellectual and multiple disabilities (PIMD) play a major and often lifelong role in the care and support of their child. A better understanding of parents' perspectives regarding their experiences of parenting their child with PIMD is essential to support them more effectively. Although this topic has been explored extensively in Anglo-Saxon and Northern European countries, little is known about the experience of these parents in a highly institutionalized context such as that in France. OBJECTIVE: We explored parents' experiences of the activities they performed to care for their child with PIMD (namely, the 'parenting work') in the French context. METHOD: Qualitative semistructured interviews were conducted by telephone with 34 parents of persons with PIMD aged 8-35. The resulting data were analyzed using thematic analysis. RESULTS: The analysis highlighted the diversity of activities performed by parents as well as the influence of context on the forms of this parenting work. Five themes were developed: (1) navigating the challenges of obtaining medical recognition; (2) negotiating a concealed domain and becoming an expert; (3) unfolding medical and medicosocial care management; (4) navigating the challenges of daily living and (5) shaping one's child's possibilities. CONCLUSION: This study offers a better understanding of the challenges, levers and expectations of parents of children with PIMD in France. Contextual factors such as the lack of knowledge of PIMD among health professionals, access to knowledge and know-how associated with care management, the administrative complexity of access to care and equipment, institutional issues (e.g., professional turnover) and societal ableism (e.g., access to infrastructures, interpersonal discrimination) shape the work parents perform to support their child's needs. It is necessary to consider contextual aspects to better support these parents and their children. Suggestions for applications are provided in the discussion. PATIENT OR PUBLIC CONTRIBUTION: One of the researchers, a parent of a child with PIMD, supported the research design and provided feedback on the study's procedures and manuscript.

Efficiency of prenatal diagnosis in Pierre Robin sequence.

OBJECTIVES: 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. Prenatal and postnatal consistencies of a specific diagnosis of PRS were 100% for women with a family history of PRS and with prenatally suspected nonisolated PRS. It was 78.6% for those with prenatally suspected isolated PRS. We describe 13 terminations of pregnancy. The 41 children living beyond 18 months seem to have more functionally severe phenotypes than the 227 children without prenatally suspected PRS. CONCLUSION: Prenatal diagnosis of isolated PRS is a challenge as other features can be missed. Use of prenatal chromosomal microarray can improve the accuracy of diagnosis. In all cases, adequate neonatal care should be offered.

Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity.

OBJECTIVE: To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS). METHOD: All prenatal ultrasounds that mentioned 'posterior cleft palate', or 'micro or retrognathia' or 'PRS' over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records for children with isolated PRS monitored over 20 years at a PRS referral center for prenatal anomalies and the severity of neonatal feeding and respiratory functional disorders were utilized for comparison. RESULTS: From a prenatal ultrasound database of 166 000 cases, 157 had one or more of the sonographic signs suggestive of PRS and had follow-up available. Of them, 33 (21%) had confirmed PRS, 9 (6%) were normal and 115 (73%) had chromosomal aberrations, associated malformations or neurological anomalies. Visualization of a posterior cleft palate in addition to retro-micrognathia had a positive predictive value of 100% for PRS. The distribution of functional severity grades was similar in cases suspected prenatally as in 238 cases of PRS followed in the referral center in Necker Hospital. CONCLUSION: Only a minority of cases of fetal retrognathia have complete PRS; the majority have other severe conditions. Prenatal prediction of functional severity of isolated PRS is not possible.

Long-term outcome of abusive head trauma.

Abusive head trauma is a severe inflicted traumatic brain injury, occurring under the age of 2 years, defined by an acute brain injury (mostly subdural or subarachnoidal haemorrhage), where no history or no compatible history with the clinical presentation is given. The mortality rate is estimated at 20-25% and outcome is extremely poor. High rates of impairments are reported in a number of domains, such as delayed psychomotor development; motor deficits (spastic hemiplegia or quadriplegia in 15-64%); epilepsy, often intractable (11-32%); microcephaly with corticosubcortical atrophy (61-100%); visual impairment (18-48%); language disorders (37-64%), and cognitive, behavioral and sleep disorders, including intellectual deficits, agitation, aggression, tantrums, attention deficits, memory, inhibition or initiation deficits (23-59%). Those combined deficits have obvious consequences on academic achievement, with high rates of special education in the long term. Factors associated with worse outcome include demographic factors (lower parental socioeconomic status), initial severe presentation (e.g., presence of a coma, seizures, extent of retinal hemorrhages, presence of an associated cranial fracture, extent of brain lesions, cerebral oedema and atrophy). Given the high risk of severe outcome, long-term comprehensive follow-up should be systematically performed to monitor development, detect any problem and implement timely adequate rehabilitation interventions, special education and/or support when necessary. Interventions should focus on children as well as families, providing help in dealing with the child's impairment and support with psychosocial issues. Unfortunately, follow-up of children with abusive head trauma has repeatedly been reported to be challenging, with very high attrition rates.

Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.

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. We assessed the phonatory and morphological outcomes of 72 cognitively unimpaired adolescents with PRS, studied their oral (COHIP-SF19), vocal (VHI-9i) and generic quality of life (QoL; KIDSCREEN-52), and searched for determinants of these outcomes. RESULTS: Two-thirds of our adolescents retained low or moderate phonation difficulties, but risk factors were not identified. For 14%, morphological results were considered disharmonious, with no link to neonatal retrognathia severity. Only one vs two-stage surgery seemed to affect final aesthetic results. The oral QoL of these adolescents was comparable to that of control patients and was significantly better than that of children with other craniofacial malformations (COHIP-SF19 = 17.5, 15.4 and 25.7, respectively). The oral QoL of the adolescents with non-isolated PRS was significantly worse (COHIP-SF19 = 24.2) than that of control patients and close to that of children with other craniofacial malformations. The vocal QoL of the adolescents (mean [SD] VHI-9i = 7.5 [5.4]) was better than that of patients with other voice pathologies and better when phonation was good. The generic QoL of the adolescents was satisfactory but slightly lower than that of controls, especially in dimensions concerning physical well-being, relationships and autonomy. QoL results were lower for adolescents with non-isolated than isolated PRS. Only non-isolated PRS and low oral QoL affected generic QoL. CONCLUSION: Morphological or phonatory impairments remain non-rare in adolescents with PRS but do not seem to be directly responsible for altered QoL. These adolescents, especially those with non-isolated PRS, show self-confidence and social-relation fragility. We must focus on long-term functional and psychological results for PRS patients and improve therapy protocols and follow-up, notably those affecting the oral aspects of the disease.

Extended follow-up of neurological, cognitive, behavioral and academic outcomes after severe abusive head trauma.

Studies about long-term outcome following abusive head trauma (AHT) are scarce. The aims of this study were to report long-term neurological, cognitive, behavioral and academic outcomes, ongoing treatments and/or rehabilitation, several years after AHT diagnosis, and factors associated with outcome. In this retrospective study, all patients admitted to a single rehabilitation unit following AHT between 1996 and 2005, with subsequent follow-up exceeding 3 years, were included. Medical files were reviewed and a medical interview was performed with parents on the phone when possible. The primary outcome measure was the Glasgow Outcome Scale (GOS). Forty-seven children (out of 66) met the inclusion criteria (mean age at injury 5.7 months; SD=3.2). After a median length of follow-up of 8 years (range 3.7-12), only seven children (15%) had "good outcome" (normal life - GOS I) and 19 children (40%) presented with severe neurological impairment (GOS III and IV). Children sustained epilepsy (38%), motor deficits (45%), visual deficit (45%), sleep disorders (17%), language abnormalities (49%), attention deficits (79%) and behavioral disorders (53%). Most children (83%) had ongoing rehabilitation. Only 30% followed a normal curriculum, whereas 30% required special education services. Children with better overall outcome (GOS I and II) had significantly higher educated mothers than those with worse outcomes (GOS III and IV): graduation from high school 59% and 21% respectively (p=0.006). This study highlights the high rate of severe sequelae and health care needs several years post-AHT, and emphasizes the need for extended follow-up of medical, cognitive and academic outcomes.