Christine Loock

Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis

THE DIAGNOSIS OF FETAL ALCOHOL SPECTRUM DISORDER (FASD) is complex and guidelines are warranted. A subcommittee of the Public Health Agency of Canadas National Advisory Committee on Fetal Alcohol Spectrum Disorder reviewed, analysed and integrated current approaches to diagnosis to reach agreement on a standard in Canada. The purpose of this paper is to review and clarify the use of current diagnostic systems and make recommendations on their application for diagnosis of FASD-related disabilities in people of all ages. The guidelines are based on widespread consultation of expert practitioners and partners in the field. The guidelines have been organized into 7 categories: screening and referral; the physical examination and differential diagnosis; the neurobehavioural assessment; and treatment and follow-up; maternal alcohol history in pregnancy; diagnostic criteria for fetal alcohol syndrome (FAS), partial FAS and alcohol-related neurodevelopmental disorder; and harmonization of Institute of Medicine and 4-Digit Diagnostic Code approaches. The diagnosis requires a comprehensive history and physical and neurobehavioural assessments; a multidisciplinary approach is necessary. These are the first Canadian guidelines for the diagnosis of FAS and its related disabilities, developed by broad-based consultation among experts in diagnosis.

Identifying Fetal Alcohol Syndrome Among Youth in the Criminal Justice System

A disproportionately large number of youth and adults with fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE) seem to be coming into conflict with the legal system. Learning and behavioral difficulties associated with FAS/FAE may make them more susceptible to criminal behavior. This study determined the prevalence of FAS/FAE among youth who were remanded for a forensic psychiatric/psychological assessment. All youth remanded to a forensic psychiatric inpatient assessment unit over a 1-year period were evaluated for FAS/FAE. Of the 287 youth, 67 (23.3%) had an alcohol-related diagnosis: 3 (1.0%) had a diagnosis of FAS and 64 (22.3%) had a diagnosis of FAE. Thus, this group is disproportionately represented in the juvenile justice system, indicating the need for increased education and awareness among those in the criminal justice system involved with these youth.

Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan

The consequences of prenatal alcohol exposure were first described more than 40 years ago.[1][1],[2][2] The term “fetal alcohol syndrome” (FAS) was first used to describe the cluster of birth defects due to prenatal alcohol exposure (including growth restriction, craniofacial abnormalities and

Sleep Health Issues for Children with FASD: Clinical Considerations

This article describes the combined clinical experience of a multidisciplinary group of professionals on the sleep disturbances of children with fetal alcohol spectrum disorders (FASD) focusing on sleep hygiene interventions. Such practical and comprehensive information is not available in the literature. Severe, persistent sleep difficulties are frequently associated with this condition but few health professionals are familiar with both FASD and sleep disorders. The sleep promotion techniques used for typical children are less suitable for children with FASD who need individually designed interventions. The types, causes, and adverse effects of sleep disorders, the modification of environment, scheduling and preparation for sleep, and sleep health for their caregivers are discussed. It is our hope that parents and also researchers, who are interested in the sleep disorders of children with FASD, will benefit from this presentation and that this discussion will stimulate much needed evidence-based research.

Culture, health, and inequalities: new paradigms, new practice imperatives

Abstract This paper builds upon insights from a programme of research on culture and health that is informed by critical theoretical perspectives. The evidence generated through this research programme is drawn upon to critically examine the assumptions about the prevailing understandings of the links between culture, health, and health inequalities and to illustrate the need for new paradigms of practice. Using the case of children at risk because of their social, cultural, and material circumstances, the tenets of an alternative model of health care practice, the RICH-ER (Responsive, Intersectoral-Interdisciplinary, Child Health – Education and Research) model was introduced and studied.

Preventing Fetal Alcohol Spectrum Disorder in Aboriginal Communities: A Methods Development Project

The authors describe their three-year project working collaboratively with Aboriginal communities to prevent fetal alcohol spectrum disorder.

Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure

Head circumference is used together with other measures as a proxy for central nervous system damage in the diagnosis of fetal alcohol spectrum disorders, yet the relationship between head circumference and brain volume has not been investigated in this population. The objective of this study is to characterize the relationship between head circumference, brain volume and cognitive performance in a large sample of children with prenatal alcohol exposure (n = 144) and healthy controls (n = 145), aged 5–19 years. All participants underwent magnetic resonance imaging to yield brain volumes and head circumference, normalized to control for age and sex. Mean head circumference, brain volume, and cognitive scores were significantly reduced in the prenatal alcohol exposure group relative to controls, albeit with considerable overlap between groups. Males with prenatal alcohol exposure had reductions in all three measures, whereas females with prenatal alcohol exposure had reduced brain volumes and cognitive scores, but no difference in head circumference relative to controls. Microcephaly (defined here as head circumference ≤ 3rd percentile) occurred more often in prenatal alcohol exposed participants than controls, but 90% of the exposed sample had head circumferences above this clinical cutoff indicating that head circumference is not a sensitive marker of prenatal alcohol exposure. Normalized head circumference and brain volume were positively correlated in both groups, and subjects with very low head circumference typically had below-average brain volumes. Conversely, over half of the subjects with very low brain volumes had normal head circumferences, which may stem from differential effects of alcohol on the skeletal and nervous systems. There were no significant correlations between head circumference and any cognitive score. These findings confirm group-level reductions in head circumference and increased rates of microcephaly in children with prenatal alcohol exposure, but raise concerns about the predictive value of this metric at an individual-subject level.

Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate

Introduction Cleft lip with or without palate (CLP) can be diagnosed antenatally through ultrasound, and may be categorised as apparently isolated versus associated with other malformations. Limited data exist on the long-term outcomes following antenatal diagnosis of apparently isolated CLP. Aim This study examined the long-term post-natal outcomes of CLP when found in isolation antenatally, in order to determine the rates of unexpected additional anomalies, developmental delay or genetic syndromes. Patients and methods A retrospective chart review of antenatal and post-natal medical charts was completed for a ten-year period between January 2000 and December 2009. At least 2 years of available post-natal clinical information was required for inclusion in the study. Results A total of 97 cases of antenatally isolated CLP were ascertained. Fifteen pregnancies were terminated. Follow-up data were available for 81 liveborns, though 4 were lost to follow-up prior to 2 years of age. Twelve of the 77 children meeting study criteria were identified to have other major malformations and/or developmental disability either later in the pregnancy or post-natally. Findings included familial clefting syndromes, trisomy 21, autism spectrum disorders, brain malformations, fetal alcohol syndrome and Kabuki syndrome, among other findings. Another 11 children had additional anomalies of minor impact. Examples of findings include a perimembranous ventricular septal defect, mild unilateral optic nerve hypoplasia, mild pulmonary artery stenosis with a small atrial septal defect, and transient delays in fine and gross motor skills. No children with clefting of the lip only had major additional diagnoses. Conclusions The frequency of an associated complex developmental disorder following an otherwise reassuring fetal ultrasound is around 15%. A few diagnoses could be suspected at the antenatal assessment based on family history or exposures. Our study is lacking comprehensive assessment on the yield of genomic microarray testing for this population.

The social paediatrics initiative: a RICHER model of primary health care for at risk children and their families

BackgroundThe Responsive Interdisciplinary Child-Community Health Education and Research (RICHER) initiative is an intersectoral and interdisciplinary community outreach primary health care (PHC) model. It is being undertaken in partnership with community based organizations in order to address identified gaps in the continuum of health services delivery for ‘at risk’ children and their families. As part of a larger study, this paper reports on whether the RICHER initiative is associated with increased: 1) access to health care for children and families with multiple forms of disadvantage and 2) patient-reported empowerment. This study provides the first examination of a model of delivering PHC, using a Social Paediatrics approach.MethodsThis was a mixed-methods study, using quantitative and qualitative approaches; it was undertaken in partnership with the community, both organizations and individual providers. Descriptive statistics, including logistic regression of patient survey data (n=86) and thematic analyses of patient interview data (n=7) were analyzed to examine the association between patient experiences with the RICHER initiative and parent-reported empowerment.ResultsRespondents found communication with the provider clear, that the provider explained any test results in a way they could understand, and that the provider was compassionate and respectful. Analysis of the survey and in-depth interview data provide evidence that interpersonal communication, particularly the provider’s interpersonal style (e.g., being treated as an equal), was very important. Even after controlling for parents’ education and ethnicity, the provider’s interpersonal style remained positively associated with parent-reported empowerment (p<0.01).ConclusionsThis model of PHC delivery is unique in its purposeful and required partnerships between health care providers and community members. This study provides beginning evidence that RICHER can better meet the health and health care needs of people, especially those who are vulnerable due to multiple intersecting social determinants of health. Positive interpersonal communication from providers can play a key role in facilitating situations where individuals have an opportunity to experience success in managing their and their family’s health.

Social paediatrics: creating organisational processes and practices to foster health care access for children ‘at risk’

In recent years understanding and addressing child health inequities has become a priority for research and practice. In this paper we share research insights on an approach that shows promise for engaging across the spectrum of health services to foster access to services and supports for child development to reduce child health inequities. As pathways of influence on children’s health and development extend beyond the biomedical domain new approaches to practice are needed to foster health care access and to mobilise needed supports. The Social Paediatrics Initiative has been introduced in one of Canada’s poorest inner city neighbourhoods where a disproportionate number of children experience adverse childhood events and enter school developmentally delayed. The research was undertaken in partnership with practitioners, community based organisations and the formal health services sector. The study gathered data from parents, community members and clinicians to understand the range of conditions that interfere with access to health care and to illustrate the ways the Social Paediatrics Initiative sought to foster access and provide care that was responsive to the health and developmental needs of children at risk because of their social and material circumstances. In particular we illustrate ways in which intersectoral and interdisciplinary partnerships enabled clinicians to provide needed supports to address the social determinants of health.