Visual and ocular findings in children with fetal alcohol spectrum disorders (FASD): validating the FASD Eye Code in a clinical setting.

OBJECTIVE: Fetal alcohol spectrum disorders (FASD) is an umbrella term covering a spectrum of medical conditions caused by prenatal alcohol exposure. The FASD Eye Code is a new complementary ophthalmological diagnostic tool created to corroborate the complex FASD diagnosis. The aim of this work was to validate the FASD Eye Code by testing it on a second group of children diagnosed with FASD in a clinical setting. METHODS AND ANALYSIS: A clinical study was carried out in a group of 21 children (13 males, 8 females, mean age 13.3 years) investigated for suspected FASD and a healthy sex-matched and age-matched control group (n=21). The participants underwent a detailed ophthalmological examination including visual perception problems (VPPs) assessment. Clinical examination results were compiled, and total scores were calculated according to the FASD Eye Code protocol (range 4-16). RESULTS: The median total score in the FASD group was 8. Eight individuals in the FASD group and none of the controls obtained a total score of ≥9 corresponding to 38% sensitivity and 100% specificity with an area under the curve of 0.90. A cut-off total score of ≥8 showed 52% sensitivity and 95% specificity. One individual in the FASD group versus 12 controls had a total score of 4, representing normal findings. No significant difference between the two groups regarding VPPs was seen. CONCLUSION: The FASD Eye Code can be used as a complementary diagnostic tool for FASD to assist in diagnosis and to detect ophthalmological abnormalities in individuals with suspected FASD.

Visual perception problems and quality of life in young adults with foetal alcohol spectrum disorders.

PURPOSE: To investigate visual perception problems (VPPs), health-related quality of life (HRQoL) and vision-related quality of life (VRQoL) in young adults with foetal alcohol spectrum disorders (FASD) and to compare the results with healthy controls. METHODS: Thirty young adults with FASD (13 female; mean age 23 years) and 29 controls (20 female; mean age 25 years) participated. Five areas of VPPs were assessed by a structured history-taking. In the FASD group, VPPs were investigated both in childhood (mean age 8 years) and in early adulthood in a prospective follow-up. Health-related quality of life (HRQoL) was investigated with the Pediatric Quality of Life Inventory™ (PedsQL) and VRQoL with the 25-item Visual Function Questionnaire (VFQ-25). RESULTS: Visual perception problems (VPPs) in at least one area were reported by 16/30 FASD participants (53%) and 1/29 controls (3%) (p = 0.0001, Fisher's exact test), with a similar rate in the same individuals in childhood as in early adulthood (8/27 and 15/27, respectively p = 0.09, McNemar's test). PedsQL total score was lower in the FASD group (n = 20; median: 83; 95% confidence interval (CI) 76-88) compared with controls (n = 29; median: 91; 95% CI 90-95; p = 0.0001, Mann-Whitney U-test). VFQ-25 subscale general vision indicated lower VRQoL in the young adults with FASD (n = 19; median: 80; 95% CI 80-100) compared with controls (n = 29; median: 100; 95% CI 100-100; p = 0.003). CONCLUSION: Young adults with FASD in the present study had more VPPs and worse VRQoL and HRQoL than healthy controls. In the FASD group, VPPs were reported in childhood as well as in early adulthood.

The FASD Eye Code: a complementary diagnostic tool in fetal alcohol spectrum disorders.

OBJECTIVE: To create an easy-to-use complementary ophthalmological tool to support a fetal alcohol spectrum disorder (FASD) diagnosis. METHODS AND ANALYSIS: The FASD Eye Code was derived from 37 children with FASD evaluated along with 65 healthy age-matched and sex-matched controls. Four ophthalmological categories, which are abnormalities commonly found in children with FASD, were ranked independently on a 4-point scale, with 1 reflecting normal finding and 4 a strong presence of an abnormality: visual acuity, refraction, strabismus/binocular function and ocular structural abnormalities. The tool was validated on 33 children with attention deficit/hyperactivity disorder (ADHD), 57 children born moderate-to-late premature (MLP) and 16 children with Silver-Russell syndrome (SRS). Among children with ADHD none was born prematurely or small for gestational age (SGA) or diagnosed with FASD. Among children born MLP none was SGA, had a diagnosis of ADHD or FASD, or a history of retinopathy of prematurity. Children with SRS were all born SGA, half were born preterm and none had FASD. Children with FASD were re-examined as young adults. RESULTS: An FASD Eye Code cut-off total score of ≥10 showed an area under the curve (AUC) of 0.78 (95% CI 0.69 to 0.87), with 94% specificity and 43% sensitivity, in discriminating between FASD and controls, MLP and ADHD, corresponding to a positive likelihood ratio (LR+) of 7.5. Between FASD and controls, an AUC of 0.87 (CI 0.80 to 0.95), with 100% specificity and 43% sensitivity, was found; between FASD and SRS, an AUC of 0.60 (CI 0.45 to 0.75) was found, with 88% specificity and 43% sensitivity. A cut-off score of≥9 showed a specificity of 98% and a sensitivity of 57% for FASD versus controls, corresponding to an LR+ of 36.9. Scores in individuals with FASD were stable into young adulthood. CONCLUSION: The FASD Eye Code has the potential to serve as a complementary tool and help to strengthen an FASD diagnosis.

Thinner retinal nerve fibre layer in young adults with foetal alcohol spectrum disorders.

BACKGROUND/AIMS: Ophthalmological abnormalities such as ptosis, strabismus, refractive errors and optic nerve hypoplasia have been reported in foetal alcohol spectrum disorders (FASD). The purpose of this study was to investigate whether retinal thickness, retinal nerve fibre layer (RNFL) and optic disc area (ODA) differ between individuals with FASD and healthy controls. METHODS: Best-corrected visual acuity (BCVA) in terms of logarithm of the minimum angle of resolution (logMAR), refraction, and fundus variables measured by optical coherence tomography were obtained from 26 young adults with FASD (12 women, median age 23 years) and 27 controls (18 women, median age 25 years). RESULTS: The total thickness of the peripapillary RNFL was significantly lower in the FASD group than in controls; median (range) in the right/left eye was 96.5 (60-109)/96 (59-107) µm in the FASD group and 105 (95-117)/103 (91-120) µm among controls (p=0.001 and p=0.0001). Macular RNFL and retinal thickness measurements from the FASD group were also lower in most of the nine ETDRS areas, except for the central parts. Median (range) BCVA in the best eye was 0.00 (-0.1-0.3) logMAR in the FASD group and 0.00 (-0.2-0.0) logMAR in controls (p=0.001). No significant differences between the groups were found regarding ODA or refraction. CONCLUSION: Significant differences in peripapillary and macular RNFL, retinal thickness and BCVA were found in this group of young adults with FASD compared with healthy controls. However, there were no differences in the size of the optic disc.

Ophthalmologic Findings in Fetal Alcohol Spectrum Disorders - A Cohort Study From Childhood to Adulthood.

PURPOSE: To investigate whether ophthalmologic findings in children with fetal alcohol spectrum disorders (FASD) persist into young adulthood. DESIGN: Prospective cohort study. METHODS: Thirty children (13 female) adopted from eastern Europe to Sweden in the 1990s and diagnosed with FASD by a multidisciplinary team at the median age of 7.9 years were followed up by the same team 13-18 years later. Visual acuity (VA), refraction, stereoacuity, strabismus, ocular media, and fundus were investigated. RESULTS: Median VA in right/left eye (OD/OS) was 20/32/20/32 (0.2/0.2 logMAR) in childhood and 20/22/20/20 (0.05/0.0 logMAR) in adulthood. Median (range) refraction OD/OS was +0.88/+1.25 (-8.75 to +4.75/-9.38 to +5.25) spherical equivalent diopter (D) in childhood and -0.25/-0.25 (-12 to +2.75/-13.25 to +2.63) in adulthood. Astigmatism (≥1 D) was the most common refractive error, in 13 (40%) and 14 (47%) subjects, respectively. Defective stereoacuity (>60 arc second) was noted in 20 subjects (67%) in childhood and 22 (73%) in adulthood. Heterotropia occurred in 12 subjects (40%) in childhood and 13 (43%) in adulthood. Increased tortuosity of the retinal vessels was found in 8 (27%) subjects in childhood vs 11 (37%) in adulthood. Optic nerve hypoplasia was recorded in 3 children and in 4 young adults. CONCLUSIONS: Ophthalmologic findings such as refractive errors, strabismus, and fundus abnormalities are frequent in children with FASD and persist into early adulthood. The facial features characteristic of FAS diminish with age, making a dysmorphology evaluation in adulthood less reliable. An ophthalmologic examination is an important part of the evaluation of FASD in childhood as well as in young adulthood.

Fetal alcohol spectrum disorders from childhood to adulthood: a Swedish population-based naturalistic cohort study of adoptees from Eastern Europe.

BACKGROUND: Fetal alcohol spectrum disorders (FASD) are a global health concern. To further understand FASD in adulthood is a major public health interest. OBJECTIVE: To describe the clinical characteristics of young adults with FASD adopted from orphanages to a socially more favourable and stable rearing environment as children. DESIGN: Prospective observational cohort study SETTING: Western Sweden PARTICIPANTS: A population-based cohort of 37 adoptees diagnosed with FASD in childhood. OUTCOME MEASURES: Assessment consisted of clinical evaluations of social, medical, psychiatric, neuropsychological, adaptive and ophthalmological status by a physician, ophthalmologist, orthoptist and psychologist. RESULTS: Out of 37 adoptees with FASD, 36 (15 females) were evaluated at a median age of 22 years (range 18-28) and a mean follow-up time of 15.5 years (range 13-17). Twenty (56%) were dependent on social support. Sexual victimisation was reported by nine (26%). In 21 individuals with fetal alcohol syndrome, growth restriction in height and head circumference of approximately -1.8 SD persisted into adulthood. Of 32 examined, 22 (69%) had gross motor coordination abnormalities. High blood pressure was measured in nine (28%). Ophthalmological abnormalities were found in 29 of 30 (97%). A median IQ of 86 in childhood had declined significantly to 71 by adulthood (mean difference: 15.5; 95% CI 9.5-21.4). Psychiatric disorders were diagnosed in 88%, most commonly attention deficit hyperactivity disorder (70%). Three or more disorders were diagnosed in 48%, and 21% had attempted suicide. The median Clinical Global Impression-Severity score was 6 = 'severely ill'. CONCLUSION: Major cognitive impairments, psychiatric morbidity, facial dysmorphology, growth restriction and ophthalmological abnormalities accompanies FASD in adulthood. Recognition of FASD in childhood warrants habilitation across the lifespan.

Evaluation of vision screening in five- to eight-year-old children living in Region Västra Götaland, Sweden - a prospective multicentre study.

PURPOSE: To evaluate the current vision screening criteria regarding amblyopia and refractive errors, with emphasis on screening limits and retesting, in Region Västra Götaland (VGR), Sweden. Visual acuity (VA) screening is performed by nurses at primary healthcare centres (PHCs) in 4-year-old children and at school in 6- or 7-year-old children. Children with VA <0.65 (>0.19 logMAR) at either eye are referred. If VA is 0.65 in one or both eyes, a retest is performed by nurses at PHCs and schools, the children are then referred if VA is <0.8 (>0.10 logMAR). METHODS: We included all children aged ≥5 and <8 years referred between October 2014 and June 2015 from PHCs and schools to the four eye clinics in VGR, with VA ≥0.65 in one or both eyes. At the eye clinic, children underwent assessment of VA, refraction in cycloplegia, eye motility, cover test, stereo test and a slit lamp examination. RESULTS: Among the 259/295 children (139 female) participating, median age was 5.7 years (5.0-7.8 years) at referral. Glasses were prescribed due to subnormal VA with refractive errors in 20% of the children, 22% displayed heterophoria, none had heterotropia and one younger child had amblyopia. Accurate retesting gave fewer false-positive referrals. CONCLUSION: Our results showed that a vision screening referral cut-off limit of VA <0.65 would leave undetected refractive errors. Residual amblyopia was uncommon. Accurate referral criteria, retesting and training of those performing the screening as well as re-evaluation of the screening programme are all important.