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. Full article

Background: Fetal Alcohol Spectrum Disorders (FASD) are the most common cause of neurocognitive impairment and social inadaptation, affecting 1 birth in 100. Despite the existence of precise diagnostic criteria, the diagnosis remains difficult, often confounded with other genetic syndromes or neurodevelopmental disorders. Since 2016, Reunion Island has been a pilot region for the identification, diagnosis, and care of FASD in France. Objective: To evaluate the prevalence and the types of Copy Number Variations (CNV) in FASD patients. Methods: A retrospective chart review of 101 patients diagnosed with FASD in the Reference Center for developmental anomalies and in the FASD Diagnostic Center of the University Hospital was performed. Records of all patients were reviewed to obtain their medical history, family history, clinical phenotype, and investigations, including genetic testing (CGH- or SNP-array). Results: A rate of 20.8% (n = 21) of CNVs was found including 57% (12/21) of pathogenic variants and 29% (6/21) of variants of uncertain signification (VUS). Conclusion: A particularly high number of CNVs was found in children and adolescents with FASD. It reinforces the plea for a multidisciplinary approach for developmental disorders to explore both environmental factors, such as avoidable teratogens and intrinsic vulnerabilities, especially genetic determinants. Full article

Possession of characteristics related to Attention Deficit Hyperactive Disorder, Oppositional Defiance Disorder, and Autism Spectrum Disorder in children prenatally exposed to alcohol contributes to challenges within the diagnostic pathway for Foetal Alcohol Spectrum Disorder (FASD). The presentation of these characteristics, though problematic for the children affected, may not result in referral for diagnosis; focusing on diagnostic thresholds masks the dimensional nature of these characteristics. Children with traits which are undiagnosed may not receive effective support and are often identified as exhibiting challenging behaviour. In the UK, children with undiagnosed Special Educational Needs (SEN) are more likely to experience school exclusion. Common across each condition are challenges to executive function associated with emotional regulation (hot-executive function). This study explored the relationship between characteristics of Attention Deficit Hyperactive Disorder, Oppositional Defiance Disorder, Autistic-Like Traits, and hot executive functions on the helpfulness of reward-based interventions for children with suspected or diagnosed FASD. Data were collected online using caregiver referral questionnaire screeners for each measure (Child Autism Quotient Questionnaire, Vanderbilt ADHD Parental Rating Scale and The Childhood Executive Functioning Inventory) for children aged 6–12 years with suspected or diagnosed FASD (n = 121). Between-group comparisons showed no significant difference in the reporting of Attention Deficit Hyperactive Disorder characteristics, Oppositional Defiance Disorder characteristics, Autistic-Like Traits, and executive function, regardless of diagnostic state. Multiple regression analyses indicated that these personality characteristics and executive functions were associated with the perception of the reward system helpfulness. However, this pattern was qualified by both the type of hot executive function challenged (significant for Regulation not Inhibition) and whether the child had an FASD diagnosis. Thus, a dimensional approach may strengthen our understanding of the child’s classroom experience and help overcome barriers to effective intervention and support. Full article

Caregiver-reported assessments provide opportunities for caregivers to share concerns and identify the strengths of their infant/toddler regarding prenatal alcohol exposure (PAE). These insights may reveal under-recognized concerns and inform a strengths-based approach to early intervention. The purpose of this study was to describe the type and frequency of caregiver-reported concerns and strengths in a sample of infants/toddlers at the time of their fetal alcohol spectrum disorder (FASD) diagnostic evaluation. Caregivers’ concerns and strengths were identified in the context of two parent-report questionnaires, the Infant Toddler Sensory Profile and Child Behavior Checklist/1½-5. By using content analysis, caregivers’ open-ended responses were identified, coded, and analyzed. The frequencies of all the coded concerns and strengths were counted. The data were compared across the two age groups (<2 years and ≥2 years) and caregiver status. Caregivers (n = 117) identified numerous concerns and strengths across multiple categories. The most frequently reported concerns were related to aggressive behavior, language/communication, and sensory processing. The most frequently reported strengths were related to happiness, sociability, and love. The type of concerns and strengths reported were relatively consistent across age and caregiver status. These findings reinforce the value of caregivers’ perspectives and offer a reminder to practitioners that infants/toddlers with PAE and their caregivers have many strengths that can be harnessed, in addition to a range of challenges that must be addressed. Full article

(1) It might be implied that those with Fetal Alcohol Spectrum Disorder (FASD) with fewer sentinel facial features have a “milder” neuropsychological presentation, or present with fewer impairments than those with more sentinel facial features. The aim of this service evaluation was to compare the neuropsychological profile of people with FASD with varying numbers of sentinel facial features. (2) A clinical sample of 150 individuals with FASD, aged between 6 and 37 years, completed various standardised assessments as part of their diagnostic profiling. These included the documented level of risk of prenatal alcohol exposure (4-Digit Diagnostic Code), sensory needs (Short Sensory Profile), cognition (Wechsler Intelligence Scale for Children—4th Edition; WISC-IV), and communication and socialisation adaptive behaviours (Vineland Adaptive Behavior Scale—2nd Edition; VABS-II). As FASD has high comorbidity rates of Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD), these were also reviewed. The profiles of the ‘FASD with 2 or 3 sentinel facial features’ group (n = 41; 28 male, 13 female) were compared with the ‘FASD with 0 or 1 sentinel facial features’ group (n = 109; 50 male, 59 female) using Chi² tests, independent sample t-tests, and Mann-Whitney U analyses (where appropriate). (3) There were no significant differences between the two comparison groups across any measure included in this service evaluation. (4) Whilst sentinel facial features remain an important aspect in recognising FASD, our service evaluation indicates that there is no significant relationship between the number of sentinel facial features and the neuropsychological profile of people with FASD in terms of severity of presentation. Full article

The diagnostic process for fetal alcohol spectrum disorder (FASD) involves a multi-disciplinary team and includes neurodevelopmental, physical, and facial assessments and evidence of prenatal alcohol exposure during the index pregnancy. With the increased use of virtual care in health care due to the pandemic, and desire of clinics to be more efficient when providing timely services, there was a need to develop a virtual diagnostic model for FASD. This study develops a virtual model for the entire FASD assessment and diagnostic process, including individual neurodevelopmental assessments. It proposes a virtual model for assessment and diagnosis of FASD in children and evaluates the functionality of this model with other national and international FASD diagnostic teams and caregivers of children being assessed for FASD. Full article

Since the recognition of fetal alcohol syndrome, alcohol has been accepted as a human teratogen. However, little is known about the relation between prenatal alcohol exposure and the spectrum of associated major birth defects. The objective of this review was to summarize data on the association of major congenital abnormalities and prenatal alcohol exposure. We included all major birth defects according to ICD-10 classification. We found that the strongest evidence to date lies in the research examining herniation (gastroschisis and omphalocele), oral clefts (cleft lip with or without palate and cleft palate) and cardiac defects. There is less consistent evidence supporting the association between prenatal alcohol exposure and anomalies of gastrointestinal system, diaphragmatic hernia, genitourinary system and neural tube defects. We found no material support for PAE and choanal atresia, biliary atresia or clubfoot. Full article