La CIE debería de eliminar la especificación etiológica en la mayoría de diagnósticos atribuibles al alcohol / For most fully alcohol-attributable diagnoses in the ICD, the etiological specification should be removed

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[A Danish fetal alcohol spectrum disorders definition].

The Danish Paediatric Society presents the first Danish definition of fetal alcohol spectrum disorders (FASD) in a new guideline. FASD is an umbrella term for conditions caused by prenatal alcohol exposure. To varying degrees, fetal alcohol damages manifest as physical defects, characteristic facial features and poor growth, as well as behavioural and cognitive disorders. It requires both somatic and psychological evaluation to identify these damages. Early diagnosis and identification of problems are important for prognosis as professional care has a positive preventive effect on comorbidities.

Neurodevelopmental profile of Fetal Alcohol Spectrum Disorder: A systematic review.

BACKGROUND: In an effort to improve the screening and diagnosis of individuals with Fetal Alcohol Spectrum Disorder (FASD), research has focused on the identification of a unique neurodevelopmental profile characteristic of this population. The objective of this review was to identify any existing neurodevelopmental profiles of FASD and review their classification function in order to identify gaps and limitations of the current literature. METHODS: A systematic search for studies published up to the end of December 2016 reporting an identified neurodevelopmental profile of FASD was conducted using multiple electronic bibliographic databases. The search was not limited geographically or by language of publication. Original research published in a peer-reviewed journal that involved the evaluation of the classification function of an identified neurodevelopmental profile of FASD was included. RESULTS: Two approaches have been taken to determine the pathognomonic neurodevelopmental features of FASD, namely the utilization of i) behavioral observations/ratings by parents/caregivers and ii) subtest scores from standardized test batteries assessing a variety of neurodevelopmental domains. Both approaches show some promise, with the former approach (which is dominated by research on the Neurobehavioral Screening Tool) having good sensitivity (63% to 98%), but varying specificity (42% to 100%), and the latter approach having good specificity (72% to 96%), but varying sensitivity (60% to 88%). CONCLUSIONS: The current review revealed that research in this area remains limited and a definitive neurodevelopmental profile of FASD has not been established. However, the identification of a neurodevelopmental profile will aid in the accurate identification of individuals with FASD, by adding to the armamentarium of clinicians. The full review protocol is available in PROSPERO ( http://www.crd.york.ac.uk/PROSPERO/ ); registration number CRD42016039326; registered 20 May 2016.

Exploring the feasibility of using electronic health records in the surveillance of fetal alcohol syndrome.

BACKGROUND: Explore the use of electronic health records (EHRs) in fetal alcohol syndrome (FAS) surveillance systems. METHODS: Using EHRs we identified diagnoses and anthropometric measurements related to the FAS criteria developed by the Fetal Alcohol Syndrome Surveillance Network (FASSNet) among children aged 0 to 12 years. RESULTS: There were 143,393 distinct children aged between 0 and 12 years enrolled in Kaiser Permanente, Georgia, during the study period. Based on diagnoses and anthropometric measurements, 20,101 children met at least one criterion of interest, and when grouped into combinations of different criteria there were 2285 who met GROWTH+CNS criteria, 76 children who met GROWTH+FACE criteria, 107 children who met CNS+FACE criteria, and 93 children who met GROWTH+CNS+FACE criteria. The prevalence of FAS as defined by FASSNet is 1.92 per 1000 children. We linked 17,084 (85.0%) children to their mothers in the health plan; only 3% of mothers of children in the GROWTH+CNS+FACE group had an indication of alcohol or drugs use, but they had the highest rate of depression (39%). CONCLUSION: Data of utility in identification of FAS are readily available in EHRs and may serve as a basis for intervention with at-risk children and in planning of future FAS surveillance programs.

Diagnostic nomenclature for foetal alcohol spectrum disorders: the continuing challenge of causality.

Prenatal alcohol exposure is a risk factor for neurologically based cognitive and adaptive disability. Diagnostic nomenclature for prenatally exposed children with cognitive and adaptive disability who lack features for foetal alcohol syndrome (FAS) or partial FAS includes the terms alcohol-related neurodevelopmental disorder (ARND) and foetal alcohol spectrum disorder(s) (FASD). Although these terms are now widely used, this paper argues that both are problematic. ARND is flawed by unjustifiably turning a risk factor into a causal factor and shrouding the result in terminological ambiguity, while FASD is not appropriate as a clinical label, and its use as a proxy for ARND deflects critical attention from the causal inferencing that is integral to diagnosing children with an alcohol-related teratogenic condition. Existing nomenclature is at odds with logical and evidence-based diagnosing and also has implications for interpretation of epidemiological data. Diagnostic nomenclature that is not tightly linked to causal inference is preferable at the present stage of this field's development.

A differential approach for examining the behavioural phenotype of fetal alcohol spectrum disorders.

BACKGROUND: In 2006, Nash and colleagues published results suggesting that individual items from the Child Behavior Checklist (CBCL) could be used as a screening tool that was highly sensitive in differentiating children with FASD from controls and children with Attention Deficit Hyperactivity Disorder (ADHD). Since many of the items referred to features of Oppositional Defiant/Conduct Disorder (ODD/CD), it was not clear whether the items reflected comorbidity with ODD/CD, or were unique to children with FASD. OBJECTIVES: The present study sought to replicate the results of our 2006 paper using a new and larger sample, which also includes a group of children diagnosed with ODD/CD. METHODS: Retrospective psychological chart review was conducted on 56 children with FASD, 50 with ADHD, 60 with ODD/CD, and 50 normal control (NC) children. Receiver operating characteristic curve (ROC) analysis of CBCL items discriminating FASD from NC was used to compare FASD to the ADHD and ODD/CD groups. RESULTS: ROC analyses showed scores of a) 3 or higher on 10 items differentiated FASD from NC with a sensitivity of 98%, specificity of 42% and b) 2 or higher on 5 items reflecting oppositional behaviors differentiated FASD from ADHD with a sensitivity of 89% and specificity of 42%. CONCLUSION: Our findings partially replicate the results of our 2006 study and additionally elucidate the behavioural differences between children with FASD and those with ODD/CD. The proposed screening tool is currently the only tool available that is empirically derived and able to differentiate children with FASD from children with clinically similar profiles.

A new method of prenatal alcohol classification accounting for dose, pattern and timing of exposure: improving our ability to examine fetal effects from low to moderate alcohol.

BACKGROUND: When examining the association between prenatal alcohol exposure and fetal effects, the timing and intensity of exposure have been ignored in epidemiological studies. The effect of using dose, pattern and timing of consumption ("composite" method) was investigated in this study, to examine the association between prenatal alcohol exposure and fetal effects. METHODS: The composite method resulted in six categories of exposure (abstinent, low, moderate, binge

Fetal alcohol spectrum disorder(FASD.

Fetal alcohol syndrome (FAS)is the leading cause of mental retardation worldwide but is also the foremost preventable cause of neurobehavioral and developmental abnormalities. It is equally important to know spectrum of disorders due to maternal alcoholism during pregnancy such as Fetal alcohol spectrum disorder (FASD)in order to identify and treat affected child and family effectively. This article aims to create awareness among practising clinicians most of whom are only aware of phenotypical variant of FASD which is FAS.In this article we discuss those aspects of FASD relevant to the clinician such as: terminological ambiguity, assessment, diagnosis and prevention.

Neuropyschological and behavioral outcomes from a comprehensive magnetic resonance study of children with fetal alcohol spectrum disorders.

BACKGROUND: Clinical and research advancements in the field of fetal alcohol spectrum disorders (FASD) require accurate and valid identification of FASD clinical subgroups. OBJECTIVES: A comprehensive neuropsychological battery, coupled with magnetic resonance imaging, (MRI), MR spectroscopy (MRS), and functional MRI (fMRI) were administered to children with fetal alcohol spectrum disorders (FASD) to determine if global and/or focal abnormalities could be identified across the spectrum, and distinguish diagnostic subclassifications within the spectrum. The neuropsychological outcomes of the comprehensive neuroimaging study are presented here. METHODS: The study groups included: 1) FAS/Partial FAS; 2) Static Encephalopathy/Alcohol Exposed (SE/AE); 3) Neurobehavioral Disorder/Alcohol Exposed (ND/AE) as diagnosed by an interdisciplinary team using the FASD 4-Digit Code; and 4) healthy peers with no prenatal alcohol. A standardized neuropsychological battery was administered to each child and their primary caregiver by a psychologist. RESULTS: Use of the 4-Digit Code produced three clinically and statistically distinct FASD clinical subgroups. The three subgroups (ND/AE, SE/AE and FAS/PFAS) reflected a linear continuum of increasing neuropsychological impairment and physical abnormality, representing the full continuum of FASD. Behavioral and psychiatric disorders were comparably prevalent across the three FASD groups, and significantly more prevalent than among the Controls. All three FASD subgroups had comparably high levels of prenatal alcohol exposure. CONCLUSIONS: Although ND/AE, SE/AE, and FAS/PFAS are distinct FASD subgroups, these groups are not distinguishable solely by their neuropsychological profiles. While all children within a group shared the same magnitude of neuropsychological impairment, the patterns of impairment showed considerable individual variability. MRI, MRS and fMRI further distinguished these FASD subgroups.

Fetal alcohol syndrome and the developing socio-emotional brain.

Fetal alcohol syndrome (FAS) is currently recognized as the most common known cause of mental retardation, affecting from 1 to 7 per 1000 live-born infants. Individuals with FAS suffer from changes in brain structure, cognitive impairments, and behavior problems. Researchers investigating neuropsychological functioning have identified deficits in learning, memory, executive functioning, hyperactivity, impulsivity, and poor communication and social skills in individuals with FAS and fetal alcohol effects (FAE). Investigators using autopsy and brain imaging methods have identified microcephaly and structural abnormalities in various regions of the brain (including the basal ganglia, corpus callosum, cerebellum, and hippocampus) that may account for the neuropsychological deficits. Results of studies using newer brain imaging and analytic techniques have indicated specific alterations (i.e., displacements in the corpus callosum, increased gray matter density in the perisylvian regions, altered gray matter asymmetry, and disproportionate reductions in the frontal lobes) in the brains of individuals prenatally exposed to alcohol, and their relations with brain function. Future research, including using animal models, could help inform our knowledge of brain-behavior relations in the context of prenatal alcohol exposure, and assist with early identification and intervention.

A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 institute of medicine criteria.

BACKGROUND: The adverse effects of alcohol on the developing human represent a spectrum of structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spectrum disorders (FASD). The first descriptions in the modern medical literature of a distinctly recognizable pattern of malformations associated with maternal alcohol abuse were reported in 1968 and 1973. Since that time, substantial progress has been made in developing specific criteria for defining and diagnosing this condition. Two sets of diagnostic criteria are now used most widely for evaluation of children with potential diagnoses in the FASD continuum, ie, the 1996 Institute of Medicine (IOM) criteria and the Washington criteria. Although both approaches have improved the clinical delineation of FASD, both suffer from significant drawbacks in their practical application in pediatric practice. OBJECTIVE: The purpose of this report is to present specific clarifications of the 1996 IOM criteria for the diagnosis of FASD, to facilitate their practical application in clinical pediatric practice. METHODS: A large cohort of children who were prenatally exposed to alcohol were identified, through active case-ascertainment methods, in 6 Native American communities in the United States and 1 community in the Western Cape Province of South Africa. The children and their families underwent standardized multidisciplinary evaluations, including a dysmorphology examination, developmental and neuropsychologic testing, and a structured maternal interview, which gathered data about prenatal drinking practices and other demographic and family information. Data for these subjects were analyzed, and revisions and clarifications of the existing IOM FASD diagnostic categories were formulated on the basis of the results. RESULTS: The revised IOM method defined accurately and completely the spectrum of disabilities among the children in our study. On the basis of this experience, we propose specific diagnostic criteria for fetal alcohol syndrome and partial fetal alcohol syndrome. We also define alcohol-related birth defects and alcohol-related neurodevelopmental disorder from a practical standpoint. CONCLUSIONS: The 1996 IOM criteria remain the most appropriate diagnostic approach for children prenatally exposed to alcohol. The proposed revisions presented here make these criteria applicable in clinical pediatric practice.

On categorizations in analyses of alcohol teratogenesis.

In biomedical scientific investigations, expositions of findings are conceptually simplest when they comprise comparisons of discrete groups of individuals or involve discrete features or characteristics of individuals. But the descriptive benefits of categorization become outweighed by their limitations in studies involving dose-response relationships, as in many teratogenic and environmental exposure studies. This article addresses a pair of categorization issues concerning the effects of prenatal alcohol exposure that have important public health consequences: the labeling of individuals as fetal alcohol syndrome (FAS) versus fetal alcohol effects (FAE) or alcohol-related neurodevelopmental disorder (ARND), and the categorization of prenatal exposure dose by thresholds. We present data showing that patients with FAS and others with FAE do not have meaningfully different behavioral performance, standardized scores of IQ, arithmetic and adaptive behavior, or secondary disabilities. Similarly overlapping distributions on measures of executive functioning offer a basis for identifying alcohol-affected individuals in a manner that does not simply reflect IQ deficits. At the other end of the teratological continuum, we turn to the reporting of threshold effects in dose-response relationships. Here we illustrate the importance of multivariate analyses using data from the Seattle, Washington, longitudinal prospective study on alcohol and pregnancy. Relationships between many neurobehavioral outcomes and measures of prenatal alcohol exposure are monotone without threshold down to the lowest nonzero levels of exposure, a finding consistent with reports from animal studies. In sum, alcohol effects on the developing human brain appear to be a continuum without threshold when dose and behavioral effects are quantified appropriately.

Mental illness in adults with fetal alcohol syndrome or fetal alcohol effects.

OBJECTIVE: The authors' goal was to use structured clinical interviews to characterize the type and frequency of mental illness in adults with fetal alcohol syndrome or fetal alcohol effects. METHOD: Twenty-five subjects who met criteria for fetal alcohol syndrome or fetal alcohol effects, who were older than 18 years old, and who had an IQ of greater than 70 were interviewed with the Structured Clinical Interview for DSM-IV Axis I Disorders and the Structured Clinical Interview for DSM-III-R Personality Disorders. RESULTS: Eighteen of the 25 subjects had received psychiatric treatment. The most common axis I disorders were alcohol or drug dependence (15 subjects), depression (11 subjects), and psychotic disorders (10 subjects). The most common axis II disorders were avoidant (six subjects), antisocial (four subjects), and dependent (three subjects) personality disorders. CONCLUSIONS: This study suggests that adults with fetal alcohol syndrome or fetal alcohol effects suffer from substantial mental illness.

Cognitive deficits in nonretarded adults with fetal alcohol syndrome.

Persons with fetal alcohol syndrome (FAS) who are not mentally retarded often have difficulty qualifying for special educational and vocational services. In this pilot study, 16 nonretarded young adults with FAS were divided into two groups--one with average to above-average IQ and one with borderline to low-average IQ. Participants in both groups manifested clear deficits on neuropsychological measures sensitive to complex attention, verbal learning, and executive function. The frequency and severity of cognitive impairment demonstrated in both FAS groups were greater than what would have been predicted on the basis of IQ alone. The implications of these findings for identification and management of cognitive impairment in individuals with FAS are discussed.

Correlates of psychopathology and intelligence in children with fetal alcohol syndrome.

After documenting the wide range of psychopathology and impairment of intellectual functioning in earlier contributions, the present report from long-term observations of an extended cohort of children with Fetal Alcohol Syndrome (FAS) deals with correlates of psychopathology and intelligence in these children. At preschool age, severity of morphological damage, the type of milieu, sex and IQ were significant predictors of psychopathology. In another subgroup of school-aged children, these associations were less strong; only severity of morphological damage and IQ still correlated to some extent significantly with psychopathology. Intelligence was significantly impaired in those children with severe morphological damage who were raised in institutions.

Ratings of fetal alcohol syndrome facial features by medical providers and biomedical scientists.

Medical providers, (obstetricians, pediatricians) and biomedical research scientists engaged in fetal alcohol research for many years evaluated facial photographs of newborns previously diagnosed clinically as having or not having fetal alcohol syndrome (FAS). Medical providers and biomedical scientists did not differ significantly in their ratings. Children independently diagnosed as having FAS were distinguished from non-FAS children by both groups. Providing raters with additional information about children (e.g., birth weight) did not alter judgements significantly. Raters were highly consistent in the ratings they assigned to children (r = 0.96). Accuracy was assessed using signal detection measures (e.g., likelihood ratio, d'). Based on these measures, the two occupational groups did not differ significantly, and rater accuracy was highly significant. Mean ratings were highly correlated with positive maternal Michigan Alcohol Screening Test scores (r = 0.84). These results suggest that the facial features associated with fetal alcohol exposure are readily identifiable, and this, in turn, implies that recognition problems need not be a major contributor to ascertainment of FAS.

[Alcohol embryopathy. Review and case example]. / Die Alkoholembryopathie. Ubersicht und Fallbeispiel.

Fetal alcohol syndrome is a disorder that occurs in children of alcoholic mothers and is characterized by typical craniofacial dysmorphia and retardation of mental and physical growth. Semiquantitative evaluation of the most common symptoms permits clinical classification into three stages. Although numerous hypotheses have been suggested, the pathogenetic mechanism is not yet well understood. Prevention through medical advice and counselling still remains the most successful form of therapy. A case of fetal alcohol syndrome caused by excessive maternal drinking accompanied by high nicotine consumption during pregnancy is reported.