Eye measurements in 7-year-old black South African children

BACKGROUND: Ethnic variation often renders anthropometric reference values obtained in one population unsuitable for use in others. Fetal alcohol syndrome (FAS) diagnosis relies in part on the evaluation of certain anthropometric facial features. Measurements of these facial features in South African children have not been compared with measurements obtained in other populations. AIM: The study seeks to determine the suitability of reference values obtained in other populations for the diagnosis of the facial phenotype associated with FAS in South African children. PARTICIPANTS AND METHODS: Palpebral fissure length (PFL), interpupillary distance (IPD), inner canthal distance (ICD) and outer canthal distance (OCD) measured in a group of black South African children were obtained from digital photographs using stereophotogrammetry, and compared with measurements published for other populations. The study population comprised 17 7-year-old boys and 17 7-year-old girls. The precision and reliability of measurements were examined with reference to published data. RESULTS: Eye distance measurements in the study population do not consistently reflect those in any one other population for which such measurements have been published. CONCLUSION: Population-specific reference values of eye distance measurements should be established for South African children.     

Interpupillary distance in a normal black population

This report expands on a study by Pryor [Pryor HB. Objective measurement of interpupillary distance. Pediatrics 1969: 44: 973 977] that related normal values of inner canthal distance (ICD), outer canthal distance (OCD) and interpupillary distance (IPD) for Whites, Asians and Mexican Americans. To date, no similar values have been reported for Blacks. Utilizing a sample (n = 931: 485 males; 446 females) of black people (range, birth 24 years), OCD, ICD, and head circumference (HC) were measured and tabulated. We calculated mean IPD according to Pryor's formulation and report that the general mean OCD and ICD in our sample differed significantly from, and were consistently higher than, Pryor's reported measurements for White males and females at each age level (p < 0.001). However, ICD in our sample was significantly lower at birth in both sexes, appeared to increase at a more rapid rate relative to Whites during the first 3 months of life, and reached and maintained a higher value beyond the age of 3 months, with most age groups showing a significant difference in mean ICD measurements. At each age level, the mean IPD values in Whites and Blacks were significantly higher (p < 0.001). Based upon these findings, we suggest that interpupillary distance of Black children and adults be assessed according to the mean proportions for their race.     

Eye measurements in 7-year-old black South African children

Background: Ethnic variation often renders anthropometric reference values obtained in one population unsuitable for use in others. Fetal alcohol syndrome (FAS) diagnosis relies in part on the evaluation of certain anthropometric facial features. Measurements of these facial features in South African children have not been compared with measurements obtained in other populations.

Aim: The study seeks to determine the suitability of reference values obtained in other populations for the diagnosis of the facial phenotype associated with FAS in South African children.

Participants and methods: Palpebral fissure length (PFL), interpupillary distance (IPD), inner canthal distance (ICD) and outer canthal distance (OCD) measured in a group of black South African children were obtained from digital photographs using stereophotogrammetry, and compared with measurements published for other populations. The study population comprised 17 7-year-old boys and 17 7-year-old girls. The precision and reliability of measurements were examined with reference to published data.

Results: Eye distance measurements in the study population do not consistently reflect those in any one other population for which such measurements have been published.

Conclusion: Population-specific reference values of eye distance measurements should be established for South African children.     

重庆地区2200名正常儿童青少年外耳和眼部间距的横断面调查

目的了解0～18岁正常儿童青少年外耳及眼部间距的发育,建立外耳及眼部间距正常参考值的数据库。方法选择重庆医科大学第一附属医院妇产科出生的胎龄37～40周、单胎和出生体重〉2500g的新生儿,重庆医科大学附属儿童医院儿童保健科1月龄至12岁健康体检儿童以及重庆医药高等专科学校18岁青少年为研究对象。分为新生儿组、1月龄、3月龄、6月龄、9月龄、1岁、2岁、3岁、6岁、12岁和18岁组。每组均为200名,男女各半。测量右耳的耳长、耳宽、内眦间距和外眦间距,并计算耳指数和睑裂长。分析外耳及眼部间距随年龄增长的发育规律和性别差异,并建立外耳及眼部间距正常参考值。结果①耳长、耳宽均随年龄的增长而增长。耳长1岁时较新生儿增长1.3cm,2～12岁增长缓慢,平均每年增长0.15cm,12岁时达18岁时的95%;耳宽1岁时较新生儿增长0.5cm,6岁后无明显变化。各年龄组耳长、耳宽男性均大于女性。平均耳指数随年龄的增长而下降。②内眦间距、外眦间距均随年龄的增长而增宽。内眦间距1岁时较新生儿增宽0.5cm;外眦间距1岁时较新生儿增宽1.6cm,睑裂长1岁时较新生儿增长0.6cm;以后每年增长较平缓;各年龄组内眦间距、外眦间距和睑裂长性别差异不显著。结论耳长、耳宽、内眦间距和外眦间距均随年龄增长而增长,6岁后增长不明显;耳长和耳宽发育存在性别差异。     

Eye feature extraction for diagnosing the facial phenotype associated with fetal alcohol syndrome

Victims of fetal alcohol syndrome (FAS) exhibit a unique facial phenotype that is emphasised in diagnosis. Among the characteristic facial features, several occurring in the region of the orbits can be evaluated quantitatively using distance measurements. An algorithm is described for automatic extraction and measurement of eye features from stereo photographs. The algorithm was applied to photographs of 46 six-seven-year-old children. The approach relies on peak and valley maps and integral projection functions, to locate the eyes and extract the iris, and genetic algorithms to fit cubic splines to the upper and lower eyelids. Measurements obtained automatically using this algorithm were compared with measurements obtained manually from the photographs. Mean absolute differences between automatic and manual measurements were less than 1 mm for palpebral fissure length (PFL) and interpupillary distance (IPD). Absolute differences were less than 1 mm for 80.4% of PFLs and 100% of IPDs. Inner canthal distance and outer canthal distance did not compare favourably with manual measurements.     

胎儿酒精谱系障碍的筛查工具与诊断标准

胎儿酒精谱系障碍是指母孕期酒精暴露导致的从胎儿轻度损伤到典型的胎儿酒精综合征的一系列障碍谱系，被公认为导致胎儿缺陷与儿童发育迟滞的主要原因之一，其症状包含四大类特征：胎儿宫内发育迟滞和／或出生后发育迟滞：中枢神经系统功能异常；颜面特征畸形（眼睑裂短、人中平以及上唇薄等）；母孕期酒精暴露。本文介绍该胎儿酒精谱系障碍的筛查工具和诊断标准。     

Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders

The characteristics of fetal acohol spectrum disorders (FASD) constitute a specific facial phenotype, growth failure and neurodevelopmental defects. Reported FASD prevalences vary widely from 0.08 per 1,000 up to 68.0–89.2 per 1,000. We aimed to evaluate to which extent children referred with a suspicion of FASD, indeed have FASD. We included all 27 children referred to our genetic department with a suspicion of FASD between 2005 and 2010. Nineteen children (70.3%) were of non‐Dutch ancestry, and 24 (88.9%) had been adopted. We used both the 4‐Digit Code and the Revised Institute of Medicine criteria. More than half of the children did not meet either criteria for the diagnosis of FASD. Of note, after evaluation 8/27 children appeared not to have confirmed prenatal alcohol exposure. Two children referred for suspicion of FASD (neither of which were exposed to alcohol or met the criteria for FASD) had a pathogenic microstructural chromosomal rearrangement (del16p11.2 of 542 KB and dup1q44 of 915 KB). In 22/24 children (91.7%) there were other factors that may have affected their intellectual abilities, such as familial intellectual disability and social deprivation. We recommend a critical approach towards the diagnosis FASD, and to investigate all patients suspected to have FASD for other causative factors including genetic abnormalities. © 2013 Wiley Periodicals, Inc.     

Experimental Approaches to the Study of Behavioral Impairments Associated with Prenatal Exposure to Alcohol

Neuroscience and Behavioral Physiology - Fetal alcohol spectrum disorders (FASD) in children whose mothers consumed alcohol during pregnancy are characterized by a wide spectrum of anatomical and...     

Interventions in fetal alcohol spectrum disorders: An international perspective

Fetal alcohol spectrum disorders (FASD) are present across countries and cultures, with prevalence rates threatening to rise in the coming years. In order to support children and families with FASD around the world, researchers must work to disseminate and implement evidence-based interventions. However, each cultural context presents unique elements and barriers to the implementation process. This review considers the challenges of addressing FASD in an international context. It summarizes existing FASD interventions that have empirical support in the domains of parenting and education, attention and self-regulation, adaptive functioning, and nutrition and medication. It then outlines cultural barriers pertaining to FASD that may impede the implementation process and makes suggestions for using purveyors as cultural liaisons between researchers and local stakeholders. The review concludes with recommendations for moving forward with international dissemination and implementation of FASD interventions.     

Fetal alcohol spectrum disorders: Extending the range of structural defects

Although the structural phenotype of fetal alcohol syndrome (FAS) is established, prenatal exposure to alcohol may produce a broader spectrum of defects, fetal alcohol spectrum disorder (FASD). Documenting the full spectrum of defects associated with FASD is critical to determining the true incidence of this disorder. We examined 831 children from the Collaborative Initiative on Fetal Alcohol Spectrum Disorders using a structured protocol for diagnosis of FAS using the cardinal facial and growth features, and assessment of additional structural defects thought to occur more often in children with prenatal alcohol exposure. Subjects were classified as FAS, Deferred (some characteristic features of FAS), or No FAS, Groups were compared on prevalence of additional features and number of additional features observed, stratified by diagnostic category, sex, race, and age. Prevalence of most additional features was greatest among subjects with FAS and least among No FAS. A higher frequency of additional features was observed among FAS and Deferred subjects ≥12 years of age than among those under 12. FAS and Deferred Whites had greater frequency of additional features than Cape Colored. Prenatal alcohol exposure may produce a broad spectrum of structural defects that goes beyond FAS with implications regarding the impact of alcohol on the developing fetus, a prerequisite for ultimate prevention of FASD.     

Correlation between morphological MRI findings and specific diagnostic categories in fetal alcohol spectrum disorders

Fetal alcohol spectrum disorders (FASD) include physical and neurodevelopmental abnormalities related to prenatal alcohol exposure. Some neuroimaging findings have been clearly related to FASD, including corpus callosum and cerebellar anomalies. However, detailed studies correlating with specific FASD categories, that is, the fetal alcohol syndrome (FAS), partial FAS (pFAS) and alcohol related neurodevelopmental disorders (ARND), are lacking. We prospectively performed clinical assessment and brain MR imaging to 72 patients with suspected FASD, and diagnosis was confirmed in 62. The most frequent findings were hypoplasia of the corpus callosum and/or of the cerebellar vermis. Additional findings were vascular anomalies, gliosis, prominent perivascular spaces, occipito-cervical junction and cervical vertebral anomalies, pituitary hypoplasia, arachnoid cysts, and cavum septum pellucidum.     

Prevalence of alcohol consumption during pregnancy and Fetal Alcohol Spectrum Disorders among the general and Aboriginal populations in Canada and the United States

Prenatal alcohol exposure may cause a number of health complications for the mother and developing fetus, including Fetal Alcohol Spectrum Disorders (FASD). This study aimed to estimate the pooled prevalence of i) alcohol use (any amount) and binge drinking (4 or more standard drinks on a single occasion) during pregnancy, and ii) Fetal Alcohol Syndrome (FAS) and FASD among the general and Aboriginal populations in Canada and the United States, based on the available literature. Comprehensive systematic literature searches and meta-analyses, assuming a random-effects model, were conducted. It was revealed that about 10% and 15% of pregnant women in the general population consume alcohol in Canada and the United States, respectively, and that about 3% of women engage in binge drinking during pregnancy in both countries. However, the prevalence of alcohol use during pregnancy in the Aboriginal populations of the United States and Canada were found to be approximately 3–4 times higher, respectively, compared to the general population. Even more alarmingly, it was estimated that approximately one in five women in the Aboriginal populations in both countries engage in binge drinking during pregnancy. Further, among the general population of Canada, the pooled prevalence was estimated to be about 1 per 1000 for FAS and 5 per 1000 for FASD. However, compared to the general population, the prevalence of FAS and FASD among the Aboriginal population in Canada was estimated to be 38 times and 16 times higher, respectively. With respect to the United States, the pooled prevalence of FAS and FASD was estimated to be about 2 per 1000 and 15 per 1,000, respectively, among the general population, and 4 per 1000 and 10 per 1,000, respectively, among the Aboriginal population. The FAS and FASD pooled prevalence estimates presented here should be used with caution due to the limited number of existing studies and their methodological limitations. Based on the results of the current study, it is evident that there is an urgent need for implementing more effective national prevention and surveillance strategies to monitor and lower the prevalence of alcohol consumption during pregnancy and FASD.     

Identifying the behavioural phenotype in fetal alcohol spectrum disorder: sensitivity, specificity and screening potential

Summary Background: In most cases of Fetal Alcohol Spectrum Disorder (FASD), the pathognomonic facial features are absent making diagnosis challenging, if not impossible, particularly when no history of maternal drinking is available. Also because FASD is often comorbid with Attention Deficit Hyperactivity Disorder (ADHD), children with FASD are frequently improperly diagnosed and receive the wrong treatment. Since access to psychological testing is typically limited or non-existent in remote areas, other diagnostic methods are needed to provide necessary interventions. Objectives: To determine if a characteristic behavioural phenotype distinguishes children with FASD from typically developing children and children with ADHD and use this information to create a screening tool for FASD diagnosis. Methods: Parents and caregivers completed the Child Behavior Checklist (CBCL), a well-established standardized tool for evaluating children’s behavioural problems. Results from 30 children with Fetal Alcohol Syndrome or Alcohol-Related Neurodevelopmental Disability, 30 children with ADHD, and 30 typically developing healthy children matched for age and socioeconomic status with FASD were analyzed. Based on our previous work, 12 CBCL items that significantly differentiated FASD and control groups were selected for further analyses. Stepwise discriminant function analysis identified behavioural characteristics most strongly differentiating groups and Receiver Operating Characteristics (ROC) curve analyses determined sensitivity and specificity of different item combinations. Results: Seven items reflecting hyperactivity, inattention, lying and cheating, lack of guilt, and disobedience significantly differentiated children with FASD from controls. ROC analyses showed scores of 6 or higher on these items differentiated groups with a sensitivity of 86%, specificity of 82%. For FASD and ADHD, two combinations of items significantly differentiated groups with high sensitivity and specificity (i) no guilt, cruelty, and acts young (sensitivity = 70%; specificity = 80% (ii) acts young, cruelty, no guilt, lying or cheating, steals from home, and steals outside (sensitivity = 81%; specificity = 72%). These items were used to construct a potential FASD screening tool. Conclusions: Our findings identifying the behavioural characteristics differentiating children with FASD from typically developing children or children with ADHD have the potential for development of an empirically derived tool for FASD tool to be used in remote areas where psychological services are not readily available. This technique may speed up diagnosis and intervention for children without ready access to formal assessments.     

Seizures and electroencephalography findings in 61 patients with fetal alcohol spectrum disorders

Fetal alcohol spectrum disorders (FASD) cause neurodevelopmental abnormalities. However, publications about epilepsy and electroencephalographic features are scarce. In this study, we prospectively performed electroencephalography (EEG) and brain magnetic resonance (MR) imaging in 61 patients with diagnosis of FASD. One patient had multiple febrile seizures with normal EEGs. Fourteen children showed EEG anomalies, including slow background activity and interictal epileptiform discharges, focal and/or generalized, and 3 of them had epilepsy. In one patient, seizures were first detected during the EEG recording and one case had an encephalopathy with electrical status epilepticus during slow sleep (ESES). Focal interictal discharges in our patients did not imply the presence of underlying visible focal brain lesions in the neuroimaging studies, such as cortical dysplasia or polymicrogyria. However, they had nonspecific brain MR abnormalities, including corpus callosum hypoplasia, vermis hypoplasia or cavum septum pellucidum. The latter was significantly more frequent in the group with EEG abnormal findings (p < 0.01).     

Assessing current alcohol use with the FORM 90 in a student sample

Objectives Alcohol use disorders are one of the most common problems among males. A calendar‐based instrument for assessing alcohol use, the FORM 90, has been developed and its validity has been tested in clinical samples as an alternative to prospective assessment. Our goal was to examine its validity in a (non‐clinical) student sample with and without alcohol‐related disorders. Method Using the CIDI we interviewed 120 male students and identified individuals with alcohol abuse, alcohol dependency or no substance‐related disorder. We compared these groups on a global and a calendar‐based measure – the FORM 90 – to see whether both lead to comparable results. CIDI and FORM 90 were completed by independent interviewers. Results Overall a global and calendar‐based assessment showed comparable results, but differed in the estimated number of days of alcohol consumption. More importantly, looking at the average amount of alcohol consumed at each drinking occasion, the FORM 90 revealed a highly stable alcohol consumption pattern for individuals with alcohol dependence, but a significantly less stable pattern for abusers and individuals without a lifetime‐history of alcohol‐related problems. Conclusion Even in a non‐clinical sample, using the FORM 90 can identify differences in drinking patterns in individuals with abuse and dependency who have never been treated for these conditions. This study supports the validity of the FORM 90 and suggests that this instrument might allow the examination of specific associations between drinking pattern and its correlates in such populations.     

Challenges of diagnosis in fetal alcohol syndrome and fetal alcohol spectrum disorder in the adult

Adults with fetal alcohol syndrome (FAS) and the subsets of individuals with attenuated phenotype subsumed under the umbrella term of fetal alcohol spectrum disorder (FASD) provide clinicians with a challenge. Compounding this, FASD is different from most genetic syndromes since a specific diagnostic biological test is not available. The diagnosis first needs to be suspected and confirmation requires a diagnostic assessment that is best carried out in the context of a multi-disciplinary team approach. There is surprisingly little research published on the prevalence, natural history, medical, and social complications relevant to adults with FASD. The evidence that is emerging suggests that this disorder is common, and that services to diagnose and treat these individuals are limited. Adults with FASD have a higher incidence of impairments in social adaptive and executive function, and a higher degree of psychopathology when compared to the general population. The impact of FASD has significant and serious effects on those affected with FASD, their families, and our communities. There is a need for improved access to diagnosis, and more research and evaluation of interventions currently in use. In this paper, we describe the current diagnostic criteria, the differential diagnosis, the prevalence, natural history, the behavioral and mental health consequences, medical and social management issues, and interventions for adults affected with this disorder.     

Rural-urban differences in provider practice related to preconception counselling and fetal alcohol spectrum disorders

OBJECTIVE: Fetal alcohol spectrum disorders (FASDs) are the most common form of nongenetic birth defect in North America with devastating, long-term consequences. Physicians are the primary providers of medical care for pregnant women and they play an important role in the prevention and diagnosis of FASD. We sought to determine whether differences exist between rural and urban health care providers in knowledge of, attitudes about and awareness of FASD and preconception counselling. METHODS: Surveys were mailed to a national, random sample of Canadian health care providers (n = 5361) between October 2001 and May 2002. Bivariate data analysis was completed using SPSS 14.0. RESULTS: Compared with their urban counterparts, rural providers were more likely to report being prepared to access resources related to alcohol use and dependency, yet they were less likely to agree that it was the physician's role to manage these issues (78.4% v. 82.8%, p < 0.05). Rural providers were more likely than urban providers to use a standardized tool to screen patients for alcohol use, to ask all pregnant women if they were drinking, to have cared for a patient with an FASD (56.7% v. 48.8%), to agree that providers do not make a diagnosis because of lack of time and training, and to recognize legal issues and inappropriate behaviour as secondary outcomes of FASD. Rural and urban providers were similar in their diagnostic knowledge of FASD. CONCLUSION: Few differences between rural and urban providers exist with regard to knowledge and diagnosis of FASD; however, rural providers are more prepared to access resources for women with addiction issues and are more likely to care for patients with an FASD.     

Fetal alcohol spectrum disorders in Finland: clinical delineation of 77 older children and adolescents

The adverse effects of alcohol on the developing human comprise a spectrum of structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spectrum disorders (FASD). We previously have proposed revisions to the 1996 Institute of Medicine Diagnostic Criteria for diagnoses in the FASD continuum [fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (PFAS), alcohol related birth defects (ARBD), and alcohol related neurodevelopmental disorder (ARND)], allowing for more reproducible and accurate FASD diagnosis in a clinical setting [Hoyme et al., 2005]. The NIAAA recently has coordinated and funded an international consortium of projects aimed at more complete characterization of the teratogenic spectrum of alcohol. One of the projects sites is in Finland. The aims of this project are: (1) to completely clinically characterize the structural and learning/behavioral phenotypes of a large cohort of older children and adolescents with moderate to severe disability within the FASD continuum; (2) to correlate FASD dysmorphology and behavioral phenotypes with CNS structure and function (i.e., MRS, MRI correlations); (3) to compare the phenotype of a genetically homogeneous population of Finnish children with FASD to that observed in other populations. We have recently completed dysmorphology examination and parent/guardian interviews of the 77 children in the Finnish cohort. The purpose of this report is to present historical and morphometric data on these patients, thereby more completely delineating the clinical spectrum of FASD in older children and adolescents, contrasting the phenotype with that described in other populations and examining whether a weighted dysmorphology score could be used as a clinical and research adjunct when fetal alcohol exposure is being suspected. All children were previously diagnosed with FASD by an experienced pediatric specialist in Finland, and all were exposed to significant maternal alcohol abuse prenatally. The sex ratio of the cohort was 0.38 (male: female) and ages ranged from 8 to 20 years, with a mean of 13 years. After application of the Revised IOM Diagnostic Criteria, 53% of the subjects were diagnosed as having FAS, 30% PFAS, 12% ARND, and 5% other diagnoses. Of note, although a family history of mental retardation or birth defects was rare, 43% of the children had one or more sibling who also carried a diagnosis of FAS. Eighty-nine percent of the mothers smoked cigarettes during gestation; other teratogenic exposures were rare. Almost none had undergone genetics evaluation in the past. Almost all of the subjects had resided in multiple foster placements since early childhood and had been followed regularly by pediatric specialists. Although 11% were born prematurely, 70% demonstrated prenatal growth deficiency, and 45% were microcephalic. Other than growth deficits and the cardinal facial features, the most common major and minor anomalies noted were: camptodactyly (55%), "hockey stick" or other altered palmar creases (51%), refractive errors (40%), strabismus (38%), dental crowding (43%), nail hypoplasia (38%), GU anomalies (22%), and congenital heart defects (18%), "Railroad track" ears were not observed in this population.     

Is exposure and response prevention treatment for obsessive–compulsive disorder as aversive as we think?

Background: Meta‐analytical studies have confirmed that exposure and response prevention (ERP) is the psychological treatment of choice for obsessive–compulsive disorder (OCD). Anecdotal evidence suggests that patients drop out of ERP because of the aversive nature of the treatment. Methods: In this study, eight individuals diagnosed with OCD described their experience of ERP treatment in one‐to‐one semi‐structured interviews. Qualitative data analysis was used to identify common themes across participants. Results: Common themes were categorised into a) Experience of ERP, b) specific treatment factors, c) non‐specific treatment factors, and d) quality of life impact. Conclusions: Several specific and non‐specific variables emerged as significantly impacting on the experience of completing ERP. A number of important themes emerged that provide special areas for consideration for minimising distress to clients when treating OCD using ERP.