Primary immunodeficiencies (PIDs) are a large group of genetic diseases of the immune system with highly variable clinical presentations. Allogeneic hematopoietic stem cell transplantation (HSCT) is one of the treatments offered to some patients with PIDs. It is a curative but particularly demanding treatment, potentially life-threatening, requiring several months of hospitalization, prolonged limitations in social interactions for the patient, and impacting the entire family unit. The short-term complications of HSCT are numerous and well-known. However, few studies describe the long-term psychological and cognitive complications of HSCT, particularly in the context of PIDs. The few published studies in children concern patients transplanted for hematological malignancies, a context very different from that of primary immunodeficiencies.
This study is a pilot research project focusing on the multidimensional assessment of the neurocognitive, psychological, and psychosocial functioning of children between 6 and 8 years old who have received allogeneic hematopoietic stem cell transplantation for primary immunodeficiency for at least 2 years. These stringent criteria aim to limit biases related to the diversity of ages at which care is provided.
Patients who underwent allogeneic transplantation for a primary immunodeficiency at Necker Hospital, regardless of the genetic diagnosis, and at least 2 years post Allogeneic hematopoietic stem cell transplantation.
Chronological age at the time of evaluation between 6 years and 8 years 11 months.
Holders of parental authority and children or adolescents or adults' patients informed and consenting to participate in the study
Child transplanted for a condition other than the primary immunodeficiency or at a different center.
Presence of an associated acquired or genetic neurological condition, independent of the PID, likely to significantly impair cognitive development.
Severe uncorrected sensory impairment (auditory or visual) rendering the cognitive assessment uninterpretable.
Refusal to participate by the child or those with parental authority.
Children between 6 and 8 years old who have received allogeneic hematopoietic stem cell transplantation for primary immunodeficiency for at least 2 years followed in the pediatric Immunohematology department of Necker Hospital (Assistance Publique-Hôpitaux de Paris).
Case-only
Prospective
Neurocognitive, psychological, and psychosocial assessement
Other intervention* A neuropsychological assessment including: * Administration of standardized psychometric tests. * Administration of parental and self-report questionnaires. * A semi-structured neuropsychological interview about academic and developmental history, and current difficulties. * A psychological assessment including two clinical interviews: * The first with the child alone. * The second with at least one parent (ideally both) and the child.
Standardized measure of intelligence quotient
Assessment of global intellectual functioning using the Wechsler Preschool and Primary Scale of Intelligence, Fourth Edition (WPPSI-IV) or the Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V), according to the participant's age. The Full-Scale IQ is derived from five cognitive indices: * Verbal Comprehension Index (VCI) * Visual Spatial Index (VSI) * Fluid Reasoning Index (FRI) * Working Memory Index (WMI) * Processing Speed Index (PSI) Each index is standardized with a mean of 100 and a standard deviation (SD) of 15. Individual subtests have a mean score of 10 (SD 3). Higher scores indicate better cognitive performance. Interpretation of IQ scores: * \<70: Extremely low (clinically impaired) * 70-79: Borderline * 80-89: Low average * 90-109: Average * 110-119: High average * 120-129: Superior * ≥130: Very superior For subtest scaled scores: * 15-19: Very high * 12-14: High average * 9-11: Average * 7-8: Low average * 6: Borderline * 1-5: Impaired
Assessment of attention and executive functions
Assessment of sustained attention, selective attention and executive attention using the Test of Everyday Attention for Children (TEA-Ch). The assessment includes the following subtests: * Sky Search * Score! * Creature Counting * Dual Task ("Score Dual Task") Raw performances are converted into age-adjusted percentile ranks. Higher percentile scores indicate better attentional performance. Interpretation: * ≤5th percentile: Impaired * 6th-10th percentile: Very low * 11th-25th percentile: Borderline * 26th-50th percentile: Low average * 51st-75th percentile: High average * \>75th percentile: Superior
Visual memory assessment and spatial organization
Assessment of visuospatial construction and visual memory using the Rey-Osterrieth Complex Figure Test. The following measures are analyzed: * Copy condition (visuoconstructive abilities) * Delayed recall after 20 minutes (visual memory) Results are expressed as age-adjusted Z-scores. Higher scores indicate better performance. A Z-score ≤ -1.645 is considered clinically impaired.
Assessment of reading abilities
Reading abilities are assessed using the Alouette-R Reading Test. Outcome measures include: Alouette-R * Number of correctly read words * Reading speed Results are expressed as age-adjusted Z-scores. Higher scores indicate better performance. A Z-score ≤ -1.645 is considered clinically impaired.
Anxiety assessment
Assessment of anxiety using the Revised Children's Manifest Anxiety Scale (R-CMAS). The questionnaire evaluates: * Physiological Anxiety * Worry/Oversensitivity * Social Concerns/Concentration Results include subscale scores and an overall standardized T-score. Higher scores indicate greater anxiety symptoms. Interpretation: * Raw subscale score \>13: Clinically significant * Overall T-score ≥70: Clinical range
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