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IlonaAutti-Rämö

Fetal Alcohol Spectrum Disorders

Essentials

  • Fetal alcohol spectrum disorders (FASD) is an umbrella term used to describe the spectrum of disabilities associated with prenatal exposure to alcohol.
  • Children and adolescents with permanent impairment of functional capacity due to alcohol exposure will often be in need of long-term, multidisciplinary medical supervision, treatment and rehabilitation as well as primary care support services.
  • FASD is the most common type of preventable fetal damage.

Diagnostic criteria

  • The diagnosis of FASD requires that substantial prenatal alcohol exposure has been confirmed either through a direct interview with the biological mother or from reliable collateral sources (for example a social worker or close relatives).
    • There is no known safe amount of alcohol during pregnancy.
    • The number of doses per drinking time and the repeatedness of alcohol use affect the risk of fetal injury.
    • Binge drinking (> 5 units of alcohol at a time) is associated with an especially high risk.
  • Uniform international diagnostic criteria for the syndrome have so far not been agreed upon. The most common criteria sets in use are the revised Institute of Medicine (IOM) criteria, the 4-Digit Diagnostic Code and the Canadian diagnostic recommendation that combines these two. A recommendation on the diagnostics of FAS has been drawn up in Germany 4. The IOM criteria have been updated 5.
  • The following subtypes of FASD are recognised:
    • FAS (fetal alcohol syndrome): the child fulfils all criteria of the classic syndrome, i.e. growth deficiency, a characteristic pattern of facial anomalies and wide-ranging permanent central nervous system (CNS) dysfunction or microcephaly
    • PFAS (partial fetal alcohol syndrome): a characteristic pattern of facial anomalies and either growth deficiency or wide-ranging CNS dysfunction/microcephaly
    • ARND (alcohol-related neurobehavioural disorder): wide-ranging CNS dysfunction but no characteristic pattern of facial anomalies
    • ARBD (alcohol-related birth defect): structural deformity.
  • Some of the diagnostic criteria currently employed in Finland are presented in more detail in table T1.
  • The diagnosis code Q86.00 (fetal alcohol syndrome, dysmorphic) includes both FAS and PFAS. A diagnosis code for ARND has been included in an appendix of DSM-5.

Diagnostic criteria applied in Finland for the time being, based on IOM criteria and local research.

FAS = fetal alcohol syndrome
Requires all the following criteria:
A.Typical facial features, including at least 2 of the following:
  1. short palpebral fissures (below 10th percentile)
  2. thin upper lip (4 or 5 on lip/philtrum guide)
  3. smooth philtrum (4 or 5 on lip/philtrum guide)
B.Prenatal and/or postnatal growth deficiency
  • Growth deficiency starts during fetal period, may partially improve by growth. Measurements at birth are always assessed first.
  • Height or weight < -2 SD, relative weight < -10%
C.Deficient brain growth, structural abnormality or cognitive impairment, manifested as
  1. structural abnormality detected in brain imaging or
  2. head circumference < -2 SD or
  3. multiform impairment of learning ability or behaviour, which cannot be explained by hereditary or environmental factors. Such features include e.g. difficulty in performing complex tasks (e.g. problem-solving ability, planning and evaluation of tasks, mathematical tasks); difficulty in performing demanding linguistic tasks (understanding and production); behavioural special features (e.g. difficulties in interpersonal relations, emotional sensitivity).
Partial FAS
A.Typical facial features, including at least 2 of the following:
  1. short palpebral fissures (below 10th percentile)
  2. thin upper lip (4 or 5 on lip/philtrum guide)
  3. smooth philtrum (4 or 5 on lip/philtrum guide)
B.One of the following:
  1. prenatal and/or postnatal growth deficiency
    • Growth deficiency starts during fetal period, may partially improve by growth. Measurements at birth are always assessed first.
    • Height or weight < -2 SD, relative weight < -10%
  2. deficient growth or structural abnormality of the brain as in the FAS criteria
  3. multiform impairment of learning ability or behaviour, which cannot be explained by hereditary or environmental factors. Such features include e.g. difficulty in performing complex tasks (e.g. problem-solving ability, planning and evaluation of tasks, mathematical tasks); difficulty in performing demanding linguistic tasks (understanding and production); behavioural special features (e.g. difficulties in interpersonal relations, emotional sensitivity).
ARND = alcohol-related neurobehavioural disorder
  • Multiform impairment of learning ability or behaviour, which cannot be explained by hereditary or environmental factors. Such features include e.g. difficulty in performing complex tasks (e.g. problem-solving ability, planning and evaluation of tasks, mathematical tasks); difficulty in performing demanding linguistic tasks (understanding and production); behavioural special features (e.g. difficulties in interpersonal relations, emotional sensitivity).
  • ARND may also include growth deficiency, but not typical facial features.
ARBD = alcohol-related birth defect
A.Verified ample exposure to alcohol through binge drinking during first trimester
B.Congenital malformation

Occurrence

  • The overall incidence of FASD in industrialised countries is estimated to be 1-7%.
    • It is estimated that when the revised Institute of Medicine (IOM) diagnostic criteria is used, FAS and PFAS account for approximately 20-30% of all FASD cases. These children, adolescents and adults are also clinically identifiable due to their characteristic facial appearance.
    • ARND is the most common subtype of FASD. The diagnosis of ARND requires a psychological examination, an evaluation of the child's social skills and a reliable confirmation of maternal alcohol abuse during pregnancy. Evaluations made by a speech therapist and by a special education teacher are useful in planning of supportive measures. In ARND, the damage to the central nervous system can be as severe as in FAS or PFAS.
    • The distribution of the different subgroups of the FASD continuum differs significantly from country to country, which may particularly be explained by differences in drinking habits but also by factors related to the nutritional status of the mother and to genetic predisposition.
  • The exact country-specific incidence figures are not available because the disorders, in particular ARND and ARBD, are underdiagnosed.

Delayed growth

  • Particularly in FAS and PFAS
  • Fetal growth deficiency will become evident at an ultrasound examination in mid pregnancy. The growth disturbance is permanent and no significant postnatal catch-up growth of height will occur.
  • The children have low birth weight not only for gestational age but also for birth length. The weight-for-height ratio may continue to decrease during infancy, which may partly be explained by feeding problems. The weight-for-height ratio will often normalise during puberty in girls, but boys will generally remain slender.
  • Microcephaly at birth (head circumference < -2 SD) is suggestive of a developmental disorder of the CNS and predictive of difficulties in performing. The slowing down of head growth will often persist in the postnatal period in FAS and PFAS; measurements down to -4 SD are possible.

Manifestations of CNS dysfunction

  • In FAS, PFAS and ARND
  • The extent, timing and recurrence of prenatal alcohol exposure determine the severity and symptom picture of the effects Pregnant Substance Abuser.
  • Risk factors associated with the child's living environment, as well as delays in diagnosis, treatment and rehabilitation, may give rise to secondary behavioural and mental problems, which may have an even more significant impact on the prognosis in the adulthood than the fetal alcohol exposure.
  • Affected children have sleeping and feeding difficulties in infancy and are often demanding to care for due to reduced habituation (difficulties in tolerating environmental stimuli).
  • Hypotonia and delays in motor development are common in infancy, but individual therapy is only rarely needed.
  • A delay in language development is common but may also be due to secondary factors. The need for speech therapy should be decided individually for each child. Interaction between an adult and child will enhance speech development and should therefore be encouraged.
  • Hearing and vision deficits are more common in FASD, and careful hearing and vision screening is therefore recommended.
  • During the preschool years, impulsivity and attention deficit disorders as well as inability to self-regulate actions will start to adversely affect the child's daily activities, learning ability and social coping skills.
  • Intellectual capacity may range from normal to mental retardation. At school age, these children will have learning difficulties, particularly in mathematics and foreign languages. Attention deficit disorders and problems in executive functions may also have an effect on the overall learning capacity and lead to underachievement.
  • In adolescence, the lack of social skills and difficulties in conforming to general rules will easily lead to exclusion and insufficient independent living skills.
  • Performing better in developmental tests than in everyday life is typical for FASD, reflecting a difficulty in being able to flexibly apply one's skills in the challenges of different situations.
  • Antisocial behaviour (substance abuse, criminal activity, truancy from school) is secondary and caused by environmental risk factors and lack of appropriate support.
  • Sleep disorders are common at all ages.

Malformations

  • Malformations of the heart, urogenital organs, skeletal system, CNS and other organs are common but not always obvious in infancy.

Rehabilitation and prognosis

  • Environmental factors have a significant influence on the prognosis. An environment that provides the prerequisites for normal growth and development has to be secured, if required, with child protection support services.
  • In Finland, nearly all children with FAS have needed to be removed from parental care at some stage during their childhood. Approximately half of children with PFAS also have needed to be taken into care. Child protection measures are often also needed at school age for children with ARND. Repeated episodes in various care facilities and adverse events early in life add to the psychological problems of these children and adolescents, and increase the risk of secondary problems (truancy from school, behavioural problems, substance abuse, social exclusion).
  • Care and rehabilitation should be planned and organized according to individual needs.
  • School entry age and the duration of compulsory education as well as the need for any adjustments are decided individually for each child - no single typical cognitive profile or behavioural symptom picture exits.
  • The need for a learning support assistant should be evaluated Learning Disorders. If attention deficit leads to poor school performance or significant problems in social interaction, the need for ADHD medication should be considered ADHD.
  • Attention must be paid to the prevention of mental health problems and behavioural disorders, and the required treatment and rehabilitation should be provided at an early enough stage.
  • In vocational studies the demands of working life need to be taken into account. It is easier to perform in a clear, structured work than in work that requires constant accommodation and applying.
  • A diagnosis clarifies the organisation of the care and monitoring of the child and his/her family. FASD diagnosis is associated with aetiological information that stigmatizes and lays guilt on the mother, which is why there is a chance that the child is not diagnosed as having FASD. A correct diagnosis, however, is to the benefit of the child so that the special features associated with FASD diagnosis are recognized and can be taken into account.
  • Treating the mother's/parents' substance abuse problems will improve the prognosis of existing children and of those not yet born.
  • The diagnosis, treatment and monitoring of FASD calls for multidisciplinary expertise.
  • See also Pregnant Substance Abuser.

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