RESUMO
This is a retrospective chart review of 55 persons (mean age 11 years, range 2-28 years) diagnosed with fetal alcohol spectrum disorder (FASD) in one Finnish central hospital. The aim was to determine typical problems and interventions and estimate their costs during different periods of childhood between ages 0 and 16. During the first year, 29/38 (76.3%) were treated in the neonatal intensive care unit, 29/43 (67.4%) received physiotherapy, 15/43 (34.9%) were diagnosed with congenital malformation, 8/43 (18.6%) had heart defects. Between 1 and 6 years, 39/45 (86.7%) received occupational therapy, 25/45 (55.6%) speech therapy, and 12/45 (26.7%) were diagnosed with strabismus. Between 7 and 12 years, 25/37 (67.6%) were diagnosed with ADHD and special education was recommended for 30/37 (81.1%). Learning disorders and the need for psychiatric care increased with age. Between 13 and 16 years, 12/15 (80%) were treated in the psychiatric unit, and by this age, 8/15 (53.3%) were diagnosed with intellectual disability. Before 16 years, 44/55 (80%) were placed out of home, which caused 78.5% of the estimated cumulative mean extra costs of EUR 1,077,000 in 2022 currency. Except for psychiatric costs, health care costs were highest during early years. Charting typical patterns of problems may help in identifying children with FASD and planning follow-ups, content of assessments, and interventions.
RESUMO
This retrospective chart review study sought to explore neuropsychological profiles, neuropsychiatric and psychiatric comorbidity, changes in diagnoses, support at daycare and school, medication use, psychiatric referrals, and progression into further education in a cohort of participants with borderline intellectual functioning (BIF). Additionally, developmental factors connected to BIF were studied. Delays in language and gross motor development were the initial reasons for the parents to seek health care. Comorbid neuropsychiatric and psychiatric diagnoses were frequent, a total of 41% of participants were referred to psychiatric services, and 45% used medication. Educational support was needed by 92% of the study participants. The majority of those graduating elementary school continued their studies at ordinary or special vocational schools. The risk of dropping out during secondary studies appeared to increase. The results in most of the neuropsychological subdomains declined over time, and 23% of the participants were later diagnosed with an intellectual disability (ID). The early developmental signs pointing towards BIF and the need for prompt support were a delay in language and motor development, difficulties in executive function, a delay in learning the activities of daily living among children under school age, and difficulties in reading and arithmetic skills and abstract reasoning at school age. It is important to follow up and support individuals with BIF as their risk for being left behind in the society is increased. Also, it would be important to repeat the neuropsychological testing of cognitive and adaptive functions before graduating elementary school as to capture those who meet the ID criteria.
RESUMO
This retrospective chart review study explored the etiology, use, and yield of the etiological investigations of 651 children and adolescents diagnosed with borderline intellectual functioning (BIF). Neurological, neurodevelopmental, or neuropsychiatric comorbidities were frequent, and in 23%, the BIF diagnosis evolved into an intellectual disability (ID) by the time of discharge. A primary etiological cause was found in 37.6%, the most prevalent causes being pre- or perinatal conditions, genetic syndromes/chromosomal abnormalities, fetal exposure to maternal substance use, cerebral dysgenesis, and neurological diseases. In total, 79.1% of patients went through one or more investigations during their follow-up. The best etiologic yield leading to a diagnosis in this study population was with exome sequencing, a specific gene panel, microarrays, electroneuromyography, and brain magnetic resonance imaging (MRI). Etiological investigations were performed more frequently among those children receiving an ID diagnosis. Yet, there was no statistically significant difference in the proportion of abnormal findings between the BIF and ID groups. This may mean that the current strategy for determining the need for etiological investigations or current means to gain an etiology is still indecisive. Considering that BIF is defined to include individuals performing between normal cognitive functioning and mild ID, this implies that the prevalence would be anywhere between 7 and 14%. Thus, it could be argued whether in-depth etiological investigations may be justified in cases other than ID in this age group of children over five. With these children and adolescents, the clinicians have to discern between those with a normal variation and those having major difficulties in adaptive behavior affecting everyday life in order to specify and prescribe the rehabilitation or other measures needed. We advocate for a targeted etiological search after careful history-taking and neurological examination. National guidelines that take into account the severity of developmental delay are warranted.
