ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION, Primary Immunodeficiencies
Conditions
Keywords
Primary immunodeficiencies, Allogeneic hematopoietic stem cell transplantation, Neurocognitive functioning, Psychological functioning, Psychosocial functioning
Brief summary
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.
Detailed description
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. The study will take place within the pediatric immuno-hematology department of Necker-Enfants Malades Hospital (Assistance Publique-Hôpitaux de Paris) during a day hospital visit as part of routine follow-up.
Interventions
OTHERNeurocognitive, psychological, and psychosocial assessement
* 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.
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to 8 Years
Healthy volunteers
No
Inclusion criteria
* 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
Exclusion criteria
* 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. * Child not fluent in French or not proficient enough in French to complete the cognitive tests and questionnaires. * Profound intellectual disability.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Standardized measure of intelligence quotient | Time 0 | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Assessment of attention and executive functions | Time 0 | 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 | Time 0 | 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 | Time 0 | 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 | Time 0 | 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 |
| Evaluation of behavioral functioning | Time 0 | Assessment of behavioral functioning using the Conners 3rd Edition (Conners-3). The questionnaire evaluates: * Inattention * Hyperactivity/Impulsivity * Learning Problems * Executive Functioning * Aggression * Peer Relations * Conduct Disorder * Oppositional Defiant Disorder Results are expressed as standardized T-scores. Higher scores indicate greater symptom severity. Interpretation: * T-score \<65: Within normal limits * T-score 65-69: Borderline * T-score ≥70: Clinically significant |
| Assessment of autonomy and adaptability | Time 0 | Assessment of adaptive functioning using the Vineland Adaptive Behavior Scales, Second Edition (Vineland-II). The assessment evaluates adaptive functioning across three domains: * Communication (Receptive, Expressive, Written) * Daily Living Skills (Personal, Domestic, Community) * Socialization (Interpersonal Relationships, Play and Leisure, Coping Skills) Domain scores are derived from subdomain v-scale scores. Interpretation of v-scale scores: * 1-9: Low * 10-12: Moderately low * 13-17: Adequate * 18-20: Moderately high * 21-24: High Higher scores indicate better adaptive functioning. |
| Assessment of socio-emotional skills | Time 0 | Assessment of socio-emotional competencies using the Social Skills Improvement System, Social-Emotional Learning Edition (SSIS-SEL). The assessment evaluates five core domains: * Self-awareness * Self-management * Social awareness * Relationship skills |
| Description of the experience of the illness and the transplant, and of the current psychological state | Time 0 | Qualitative analysis of the semi-structured interview with the child and then with the family, focused on the experience of the illness and the transplant and on the current psychological state. |
| Assessment of emotional and behavioral disorders | Time 0 | Assessment of emotional and behavioral functioning using the Child Behavior Checklist (CBCL). The following syndrome scales and composite scores are evaluated: * Anxiety/Depression * Withdrawn/Depressed * Somatic Complaints * Social Problems * Thought Problems * Attention Problems * Rule-Breaking Behavior * Aggressive Behavior * Internalizing Problems * Externalizing Problems * Total Problems Score Results are expressed as standardized T-scores. Higher T-scores indicate greater emotional or behavioral difficulties. Interpretation: * T-score \<65: Normal * T-score 65-69: Borderline clinical range * T-score ≥70: Clinical range |
| Assessment of handwriting abilities | Time 0 | Handwriting abilities are assessed using the BHK Handwriting Test. Outcome measures include: • Handwriting speed Results are expressed as age-adjusted Z-scores. Higher scores indicate better performance. A Z-score ≤ -1.645 is considered clinically impaired. |
Countries
France
Contacts
CONTACTAgathe Escudier, M.D.
CONTACTHélène Morel
PRINCIPAL_INVESTIGATORAgathe Escudier, MD
Assistance Publique - Hôpitaux de Paris
STUDY_DIRECTORBénédicte Neven, M.D., PhD
Assistance Publique - Hôpitaux de Paris
Outcome results
None listed