Fetal alcohol syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q86.0 Alcohol embryopathy (with dysmorphism)
ICD-10 online (WHO version 2019)

The Fetal Alcohol Syndrome ( FAS ), and fetal alcohol syndrome ( AE ) called, is a series of prenatal damage incurred by a child taken by the pregnant mother liquor .

Possible defects (see below: Postnatal Symptoms ) include a head that is too small, facial deformities, heart defects, movement disorders , strabismus and intellectual disabilities. If the child's organ formation is already complete by the time the alcohol is consumed, there are usually no or only minor physical malformations and the child shows only minor external characteristics. Damage to the central nervous system (CNS), sometimes accompanied by cognitive and behavioral disorders, can nevertheless be present. The term fetal alcohol effect (FAE) is used for this form of FAS, which is weakened in terms of symptoms but not generally “lighter” in terms of effects on the child .

Since the boundaries between FAS and FAE are fluid, all relevant diagnoses are summarized under the collective term Fetal Alcohol Spectrum Disorder (FASD) - German: Fetal alcohol spectrum disorder .

Fetal alcohol spectrum disorders are estimated to be the most common of all congenital diseases in Germany. Refraining from consuming alcohol during pregnancy is 100% prevention.

definition

If an embryo ( up to the 9th week of pregnancy ) or fetus ( from the 9th week of pregnancy ) is exposed to alcohol and alcohol breakdown products during its development, it is not only inhibited in its development, but also experiences other physical conditions depending on the stage of maturity, the amount of alcohol and individual disposition and cognitive developmental impairments . This damage that can be diagnosed after birth is summarized under the terms fetal alcohol syndrome (in the full picture) or under fetal alcohol effects (in the case of less severe symptoms). Fetal Alcohol Spectrum Disorder is used as a generic term .

history

FAS, although certainly as old as alcohol consumption itself, was first described as a developmental disorder due to alcohol consumption during pregnancy by Paul Lemoine in France in 1968 and again in the USA in 1973 by Kenneth Lyons Jones and David W. Smith . The diagnostic criteria have remained essentially unchanged since then: the occurrence of a large number of typical physical, cognitive and social development disorders.

root cause

The cause of the FAS and the FAE is always and exclusively the mother's alcohol consumption during pregnancy. Alcohol is generally recognized as reprotoxic (teratogenic). It is one of the toxic substances that cross the placental barrier , which separates the bloodstream of mother and child, so that the unborn child experiences the same alcohol level via the umbilical cord as his mother. The breakdown takes place mainly in the mother's liver ; the child's liver is still incomplete and only develops its own efficient metabolism after birth . Depending on the stage of maturity, amount of alcohol and individual disposition, alcohol consumption by the pregnant woman irreversibly damages the physical and organic development as well as the later cognitive and social abilities of the unborn child.

Some deficits are probably caused by the fact that the alcohol damages the Purkinje cells in the embryonic cerebellum , which are responsible for balance and muscle coordination. As demonstrated in sheep , this damage is in turn caused by the acidic pH in the blood after alcohol has been absorbed into the circulation. All harm that occurs to children during their development during pregnancy can be completely avoided by avoiding alcohol during pregnancy.

At the moment, it must be assumed that any alcohol consumption at any point in time during pregnancy poses a fundamental risk for the child and that no limit can be specified below which no harm to the child is to be expected with certainty. So far it has not been possible to prove with certainty whether there is a tolerable, non-harmful amount of alcohol, and if so, where it should be located qualitatively and quantitatively. In addition to studies that rate low alcohol consumption as not being significantly harmful , there are also findings that miscarriages occurred even with just one major alcohol consumption . The July 2007 issue of Baby und Familie also summarizes the latest study results by British scientists. The research team had a group of subjects watched by children whose mothers had drunk during pregnancy almost a glass of wine or beer a week. Based on their analysis, they came to the conclusion that even this alcohol consumption by mothers, which is generally assessed as a “small amount”, sometimes leads to later behavioral disorders in the children. In general, girls are less likely to develop emotional disorders and hyperactivity than boys. In the study, however, a 37% increase in abnormalities was registered in girls.

The father's alcohol consumption plays no role in the developmental disorders. This can be deduced from the fact that FAS is not a genetic disorder, but rather poisoning during pregnancy. On the other hand, the postnatal alcohol consumption of the father and other (close) family members - as well as the further consumption of alcohol by the mother - as part of the social environment can have considerable negative effects on the support of the child.

In particular, children with the full picture of the syndrome grow up in adoptive or foster families due to the mother's alcohol problem, which often persists after birth.

frequency

Alcohol is the most widespread of the many substances that have a potentially toxic effect on the child during pregnancy and has the greatest social acceptance of consumption. In a 2007 study by the Charité, 58% of the pregnant women surveyed stated that they occasionally drink alcohol. FASD would be completely avoidable if the pregnant woman behaved accordingly. However, since statistically only one in five women in Western countries consistently refrains from any alcohol consumption during pregnancy, alcohol-related harm is widespread there. According to the Robert Koch Institute in Germany, fetal alcohol syndrome is the most common cause of intellectual disabilities with an average of one affected child in 350 births. That would be around 2,000 affected children every year. It is therefore twice as common as Down syndrome, for example .

According to the Federal Center for Health Education , around 10,000 newborns with alcohol damage are born in Germany every year. Fetal alcohol spectrum disorders are therefore the most common of all congenital diseases. Of these children, around 4,000 showed the full picture of the fetal alcohol syndrome. That would be one FAS for every 200 or so births. They are usually severely physically and mentally disabled for a lifetime .

The number of unreported cases for children with fetal alcohol effects is estimated at around 11,000 to 16,000, as it is assumed that children with abnormalities in terms of fetal alcohol effects are often not diagnosed as such. Mothers are concerned about their own stigmatization and the stigmatization of the child, so the consumption of alcohol during pregnancy is often concealed or trivialized, so that research is being carried out into other causes.

The prevalence of fetal alcohol syndrome correlates directly with alcohol consumption and therefore varies greatly from country to country. FAS is extremely common in South Africa with over 5.5% of all newborns. In countries with a ban on alcohol , FAS is naturally extremely rare.

Prenatal Development Disorders

The poisoning of the unborn child with alcohol leads to different developmental disorders depending on the stage of maturation.

First trimester:

The embryo is characterized in the first trimester by the process of organogenesis , that is, the organs are created. The damage that can occur during this time is correspondingly profound : microcephaly and microencephaly ( underdevelopment of the head / brain), craniofacial hypoplasia (facial changes with structural underdevelopment) and malformations of internal organs are the most common.

Second trimester:

During this period, the greatest risk of maternal alcohol consumption is miscarriage . Furthermore, there is growth retardation (growth retardation) with lag or delay in physical development.

Third trimester:

During this time, the fetus grows physically and cognitively to maturity. The influence of alcohol poses a risk of growth retardation and damage to the central nervous system . This danger is greatest at this point.

Not only regular or excessive drinking has a harmful effect in this sense. The episodic (occasional) consumption of alcohol can cause specific damage to the unborn child, depending on the developmental phase: During the fourth week of pregnancy, for example, the influence of alcohol can influence the shape of the head, while in the sixth week the development of the kidneys can lead to malformations. During the entire course of pregnancy, the brain is in a process of maturation and is accordingly the most susceptible organ that is at risk of alcohol-related damage.

Postnatal symptoms

Baby with facial features typical of fetal alcohol syndrome: small eyes, smooth philtrum , narrow upper lip
Fetal Alcohol Syndrome Face

In principle, alcohol consumption by pregnant women can damage all organs and organ systems of the unborn child, even though some parts of the body are particularly affected in the typical form of FAS. The diagnosis of the classic syndrome in severely affected children is based particularly on external characteristics. These include: short stature, underweight, small-headedness (microcephaly), poor muscle development, typical facial changes, cognitive developmental delays and behavioral disorder (s). The severity of alcohol-related harm in children, as well as the individual qualitative and quantitative characteristics of the mother's alcohol consumption, have a wide range that must be considered and assessed on a case-by-case basis. Little attention has been paid to the fact that not only maternal alcohol dependence has a negative effect on the child, but also that social occasional drinking, which has been largely tolerated by society and sometimes even required, can have a toxic effect. Despite the high medical importance with regard to permanent harm to the child, the trivialization of alcohol consumption during pregnancy is still widespread among gynecologists, and pediatricians in particular find it very difficult to diagnose fetal alcohol effects.

Not all affected children show all characteristics, and the characteristics are not always equally pronounced. FAS usually shows more and more pronounced symptoms than FAE, although the individual impairments can be just as serious: Changes in the child's physical area can be so inconspicuous that a layperson does not notice any difference to a healthy child, but also so pronounced that it is immediately noticeable and can sometimes have a socially stigmatizing effect (“drunkard child”). The physical damage can be associated with disorders in brain performance (from learning difficulties to intellectual disabilities) and disorders of mental, emotional and social development. However, a general relationship between physical characteristics and cognitive impairments cannot be assumed.

Common symptoms of FASD are premature births, with incomplete limbs and open pubic area, as well as the formation of a third lung (embossing of an attachment).

  • Physical area
    • Stunted growth, short stature , underweight
    • Comparatively small head circumference ( microcephaly ), underdevelopment of the brain (microencephaly)
    • In profile, the middle face appears flat with a flat upper jaw region, receding chin ( micrognathia ) and a short, flat nose ( snub nose ) with nostrils initially pointing forward ( socket nose )
    • Narrow (upper) lip red (missing Cupid arch ) and little modulated, flat or missing central groove ( philtrum ) between nose and upper lip
    • Small teeth, increased tooth spacing
    • Particularly shaped and set ears
    • Comparatively small eyes with narrow, partly drooping eyelids ( ptosis )
    • Sickle-shaped skin fold at the inner corners of the eyes ( epicanthus medialis )
    • Anti-mongoloid (downward outward, laterally-caudally sloping) lid axes
    • Hemangioma (blood sponges)
    • Sacral dimples
    • Muscle weakness ( hypotonia ), underdevelopment of the muscles
    • Connective tissue weakness , insufficient subcutaneous fatty tissue
    • Special hand furrows, flat hand line relief
      Cleft palates can be caused by alcohol consumption during pregnancy
  • Organic area, physical malformations
  • Neurological-cognitive area
    • General developmental retardation to the point of becoming dependent
    • Difficulty concentrating, learning disabilities , cognitive disabilities
    • Difficulty in understanding abstract things and logical connections
    • Problems with capturing terms such as soon , before , after , soon , the day after tomorrow .
    • Problems in the math field, e.g. B. Estimating numbers, understanding the time, and dealing with monetary values
    • Seizures, epilepsy
    • Emotional instability, fluctuations in balance, moods and expressions of feeling
    • Often long-lasting outbursts of temper
    • Hyperactivity
    • Hyperexcitability (over-excitability of the central nervous system)
    • Over- or under-sensitivity related to often even slight pain, temperature, contact stimuli etc.
    • Under- or overreaction to tactile stimuli
    • Trust (e.g. going with strangers)
    • Increased willingness to take risks, recklessness, and thus increased risk of accidents
    • Aggressiveness and destructiveness
    • Above-average response times
    • Inattentiveness, easy distraction through to overstimulation from various environmental stimuli (lights, colors, noises, movements, people, etc.)
  • Behavioral problems
    • Motor coordination difficulties due to delays in developing fine and gross motor skills and poor eye-hand coordination ("clumsy")
    • Problem-solving difficulties (always the same approaches without variables)
    • Self-stimulating, sometimes self-harming behavior
    • Impatience and spontaneity on the one hand, difficulty making decisions on the other
    • Dissocial and oppositional behavior
    • Failure to recognize the consequences
    • Difficulty integrating properly into social relationships and feeling comfortable in them
    • Ignorance of verbal instructions, uncooperative and oppositional behavior in the case of verbally expressed boundaries (non-acceptance of "no")
    • Unresponsiveness or incomprehension to non-verbal signals through gestures, facial expressions and body language of other people
    • Correct understanding of instructions, but inability to carry out them appropriately
    • Often anxious, anxious and chronically frustrated attitudes
    • Low tolerance for frustration
    • Quick fatigue

Diagnosis and FASD types

The ICD-10 code O35.4 is given when caring for pregnant women who (suspected) harm to the unborn child through alcohol consumption. For the newborn, however, the ICD-10 code Q86.0 is used.

Since the mother's alcohol consumption during pregnancy can have different effects, the diagnosis differentiates between different clinical pictures. FAE or FAS is diagnosed in the majority of the literature according to the following criteria after birth, sometimes only in the course of childhood when disorders manifest themselves:

FAE (FAS grade I-II)

  1. The mother's alcohol consumption must be ensured
  2. Two of the three FAS criteria must be present

FAS (full screen)

The following three main criteria must be present:

  1. Pre- / postnatal growth disorders ( dystrophy )
  2. Central nervous system disorders
  3. Facial changes ( oblique eyelid axes, narrow lip red, hypoplastic philtrum )

Partial Fetal Alcohol Syndrome (pFAS)

This subtype of FASD affects those in whom the mother's alcohol consumption during pregnancy is certain, but only two of the three main criteria - CNS abnormalities and facial changes - are present.

Alcohol-Related Neurodevelopment Disorder ARND

One speaks of ARND if the mother's alcohol consumption during pregnancy has been confirmed and the affected person has CNS abnormalities.

According to the Working Group of the Scientific Medical Societies in Germany (AWMF), at least three of the following criteria should be met in order to be able to speak of the CNS abnormality criterion:

  • Global mental retardation (at least 2 SD below normal) or
    significant combined developmental retardation in children ≤ 2 y.
  • epilepsy
  • Microcephaly

Performance at least 2 SD below the norm in the following areas:

  • language
  • Fine / graphomotor skills or gross motor coordination
  • Spatial-visual perception or spatial-constructive skills
  • Ability to learn or remember
  • Executive functions
  • Numeracy skills
  • attention
  • Social skills or behavior

Since no clear physical symptoms are visible here, the diagnosis is even more difficult and is easily mistaken for other mental or cognitive disorders.

Alcohol Related Birth Defects ARBD

ARBD refers to congenital malformations or malformations of the child related to the mother's alcohol consumption during pregnancy. This includes deformities of the organs as well as the bones. According to the AWMF, it is recommended that "due to the lack of specificity of the malformations and the lack of evidence for ARBD as a clear disease entity, [ARBD] not [to be used] as a diagnosis".

consequences

Children with sequelae of FAS can achieve a normal IQ, but are often physically impaired and prone to disease. Children with the full image of the FAS develop physically, some of the physical underdevelopments grow out. Malformations can sometimes be corrected surgically so that they are no longer impaired. In the cognitive area, however, it is different: Most children with FAS are mentally handicapped for life, albeit to different degrees. Optimal support for children who came to foster parents also showed no further developmental success. Mental and social deficits could not be eliminated, the children need a simply structured, clear environment in order not to be overwhelmed.

Children with FAE often have hardly any physical characteristics, and their IQ is often average. However, they become noticeable in their (social) behavior. Most children require constant supervision and many into adulthood require a wide range of support with activities in everyday life.

Prevention

The only effective and safe way to avoid alcohol-related harm to the unborn child is to completely and consistently refrain from consuming alcohol by the pregnant woman for the entire duration of the pregnancy. The greatest difficulty with any prevention approach is that many women are not aware of the risks of alcohol consumption and the possible consequences for the child, or the risks are underestimated.

The routine clarification of whether a pregnant woman has problematic consumer behavior or whether an attitude that is too careless can be assumed as part of the precautionary measure. Support or cooperation with a specialized advice center can be helpful. A broad-based prevention program, for example, is the Nurse-Family Partnership , which is carried out in 25 American states and offers two-year care beyond pregnancy.

While more and more gynecologists are doing this conscientiously and advising and motivating people to abstain from alcohol during pregnancy and breastfeeding, however, occasional consumption in particular is still often played down by doctors. On the contrary, it is not uncommon for people to drink occasionally ( “good for blood pressure”, “helps relaxation” ). Potential impairments are often underestimated, trivialized or possible risks are completely denied, while a safe limit - in the absence of this - cannot be stated.

The social prejudice that only children of alcoholic women are harmed, although this is not true in this exclusivity, persists. The primary preventive endeavor is to name any alcohol consumption by the mother during pregnancy as potentially damaging behavior, to create awareness of the problem in society as a whole, and thereby make it easier for women to consciously and, above all, socially accept and support alcohol during pregnancy and breastfeeding dispense. This is where the responsibility of the fathers comes into play.

In Russia, about 1/3 of all women of childbearing age have heard of FAS and only about 8% have had a more detailed knowledge of FAS.

Treatment approaches

Approaches to improve the quality of life and alleviate the development of secondary impairments include: a. the treatment of comorbidities, advice on nutrition, interventions in connection with behavioral problems and learning difficulties and advice for parents.

Educational approach to children affected by FASD

Since living together with children and adolescents affected by FASD is unpredictable and stormy, depending on the severity, it is important not to stick rigidly to pedagogical routines - such as consistency and rigor. Often the child lacks insight, understanding and perspective learning effects. Rather, it is important to take a change of perspective in the pedagogical stance and to develop new paths for yourself and the child. In particular, a basic understanding of the nature of the child's behavior should be developed and no age-appropriate developments should be expected compared to children who are not affected. Therefore, a disorder-specific pedagogical attitude towards the child with an orientation towards its individual possibilities and limits is required. This pedagogical approach is based on:

  • Absolute appreciation for the fact that FASD-affected children can often only cope with everyday things with excessive effort
  • Empathetic understanding
  • authenticity
  • Lovingly accepted endurance

Important elements to cope with everyday life with FASD are strategies, routines and rituals. Above all, forward-looking action plays an important role. Caregivers should plan with as much foresight as possible, as any small deviation from the rest of the process can lead to irritation and excessive demands in the child. This can mainly manifest itself in the form of outbursts of emotion. Because of this, it is also helpful to create a fixed daily structure with routines and rituals, because affected children can usually not structure themselves and need instructions when solving tasks. Due to the typical forgetfulness of FASD, it is also necessary to set up simple and few rules and to repeat them constantly and to insist on compliance. Picture cards for a wide variety of recurring tasks can also be helpful and praise the child immediately after each completed task so that the child can establish the reference.

Ultimately, it is important that the caregiver gains an understanding of FASD and recognizes exactly where the weaknesses, but also where the strengths of the child are, in order to arrive at an individual pedagogical approach. Your own inner attitude also leads to a relaxed atmosphere in which the child feels understood, safe and loved.

Regardless of a correctly or incorrectly made FASD diagnosis, it is of great relevance in professional dealings not to constantly and aggressively blame the mother for the illness of her child, as this would otherwise be counterproductive and irrelevant for adequate and successful care of the child and for a helpful cooperation with parents.

Legal claims of those affected

Degree of (severe) disability in fetal alcohol spectrum disorders and allocation of marks

The limitations associated with a fetal alcohol spectrum disorder usually justify recognition of a (severe) disability. In practice, this is highly relevant for those affected, as it gives those affected access to so-called compensation for disadvantages. "The compensation for disadvantages based on a recognized degree of disability is usually based on financial benefits and labor law privileges such as tax allowances, early retirement, additional vacation, financial contributions for a disabled-friendly car and the like" (FASD brochure 2013 for 2013). People with a fetal alcohol spectrum disorder also mostly meet the requirements for the marks H, G and B. The marks recognize that the clinical picture involves a high susceptibility to stress and impaired impulse control. This can lead to dangers not being anticipated in everyday life or actions not being reflected upon. In addition, people with a fetal alcohol spectrum disorder are less protected from manipulation or assault by others. A right to binding accompaniment can often be derived from these facts via the markings.

Legal representation of people with a Fetal Alcohol Spectrum Disorder

Legal care may be required for adults with a fetal alcohol spectrum disorder even if they have successfully completed a (school) education, because the clinical picture often makes it impossible for those affected to fully assess the consequences of legal decisions. When deciding on the appointment of a legal guardian, the supervisory court should take into account the limitation of dealing with money and appointments due to deficits in arithmetic and working memory.

Claims against health and long-term care insurance

People with health insurance are entitled to treatment if it is necessary to diagnose a disease, cure it, prevent it from getting worse or relieve the symptoms of the disease. Insured children are also entitled to examinations leading to the early detection of diseases that endanger their physical or mental development. It should be emphasized that early detection and early intervention increase the chances of a child to lead a life that is as self-determined as possible and are therefore financed by health insurance. All therapy offers should include the establishment of everyday routines and an analysis of funding opportunities, as there is still no generalized therapy for the alcohol spectrum disorder, but each individual case requires different therapeutic measures. Recognition to the long-term care insurance - people with a fetal alcohol spectrum disorder are usually able to cope with care tasks in everyday life themselves. However, they often need constant guidance, reminder, and supervision. Therefore, people with fetal alcohol spectrum disorder are often entitled to long-term care insurance benefits. In addition, people are often so limited in their everyday skills that they are not classified in a care level, but are entitled to long-term care insurance benefits because of a considerable general need for care.

Eligibility for further financial support

Claims to victim compensation from the mother are generally excluded in the case of a fetal alcohol spectrum disorder. In addition, there are no special maintenance regulations for children with a fetal alcohol spectrum disorder. Parents or adoptive parents are therefore responsible for ensuring maintenance. In spite of this, maintenance often has to be secured in connection with inpatient integration or educational help because it exceeds the parents' financial means.

In Germany, adults with a fetal alcohol spectrum disorder are entitled to financial welfare. As a rule, maintenance should be covered by their employment. If this is not the case, a distinction is made to what extent the employment does not exist, whether they are looking for work or are fully disabled. This distinction is decisive for whether and what claims those affected have against the state for financial security for their livelihood. If a person with a fetal alcohol spectrum disorder is found to be partially or fully incapacitated, they may be entitled to a pension. “If there is no entitlement to benefits from the pension insurance, but the full reduction in earning capacity has been ascertained, then the prerequisites for benefits from the basic security for people with a full disability are present” (FASD brochure 2013 for 2013). If, on the other hand, no or only a partial reduction in earning capacity is ascertained, the person is legally obliged to integrate into the labor market and to ensure basic security. With regard to support in the area of ​​housing, those affected (approved by an individual needs assessment) have supported individual living or a supported form of living as a participation service (according to §53 SGB XII; §35a SGB VIII). The entitlement to integration assistance benefits is justified and substantiated by the medical diagnosis and the socio-educational determination of the impairment of participation. A minor child or adolescent with a fetal alcohol spectrum disorder receives integration assistance either from the youth welfare office or from the social welfare office, whose jurisdiction is decided by a procedural court for the benefit of the child. This determination of responsibility depends on the reason for the specific help and the focus of the handicap.

"However, if the service was provided for a mentally handicapped child or a mentally handicapped young person, there will be a priority claim to help for young adults (Section 41 of Book VIII of the Social Code) from the public youth welfare agency even after reaching the age of majority." (FASD brochure 2013 for 2013). If after the age of majority the entitlement to benefits from the youth welfare office expires and lifelong participation benefits are still required, the transition to the social welfare benefit area is necessary. But not in rare cases this transition does not take place immediately for those affected, since deficits inherent in the syndrome are “stigmatized as personal inadequacies and denial” and are therefore not recognized as a mental handicap (p. 23). Their failure is considered to be self-responsible, so that there is accordingly no entitlement to benefits for those affected.

A service provider who does join will impose severe financial sanctions in the event of violations; however, the intended educational effect cannot occur, since the inability to learn from mistakes is one of the core symptoms of damage (impaired executive functions).

research

Increasingly, studies are being conducted to look for ways to reduce symptoms through medication and targeted nutritional supplements before or after birth.

Furthermore, we are looking for biomarkers with which a risk of a fetal alcohol spectrum disorder can be determined at an early stage so that intervention can be taken as early as possible.

Day of the alcoholic child

On the initiative of the organization FASD Germany e. V. Since 1999, the Day of the Alcohol-Driven Child has been celebrated every year on September 9 in many countries around the world . Information campaigns etc. drawn attention to the situation of children and adolescents who were born with alcohol-related harm. The resulting difficulties for them and their families should receive special social attention on this day. Another important point of the education and information efforts is the warning of the often underestimated dangers of alcohol consumption by the mother during pregnancy.

FAS in the literature

FAS is treated in , among others, Tell him not about the mountains: The moving story of the Indian boy Adam by Michael Dorris and Like a river, the blood flows through my dreams by Timothy Patrick Barrus .

See also

literature

Movies

Broadcast reports

Web links

Commons : Fetal Alcohol Syndrome  - Collection of Pictures, Videos and Audio Files

Individual evidence

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