Fetal alcohol syndrome is associated with multiple impairments in the child’s cognitive and somatic development and manifests as a result of alcohol consumption during pregnancy. With an incidence of approximately 1 in 500, fetal alcohol syndrome is one of the most common causes of intellectual disability (preceding Down syndrome).
What is fetal alcohol syndrome?
Fetal alcohol syndrome (or alcohol embryopathy) refers to multiple impairments in physical and mental development in children as a result of alcohol consumption during pregnancy. Fetal alcohol syndrome is manifested in most cases by short stature, microcephaly and typical facial anomalies such as blepharophimosis (narrowing of the palpebral fissure), sunken nasal root, epicanthus (skin fold in the area of the eyelids), narrow red lips, low-set ears, high palate and other dysmorphia (malformations) of the skeleton, heart, genitals, blood vessels or kidneys. In addition, abnormalities in behavior (hyperactivity, attention and concentration disorders) and general mental or psychomotor developmental retardation are characteristic symptoms of fetal alcohol syndrome.
Causes
Fetal alcohol syndrome is due to maternal alcohol consumption during pregnancy, although no direct correlation between the amount and the extent of impairment has yet been demonstrated. Alcohol, as a potentially toxic substance, can cross the placental barrier. Since children do not have their own fully functional metabolism (metabolism) until postnatally (after birth), especially for the breakdown of alcohol and its metabolites (including acetaldehyde), the organism of the affected child cannot break down these toxins. As a result of the intoxication, the developmental disorders and organic malformations characteristic of fetal alcohol syndrome become apparent. It is also suspected that the mother’s alcohol consumption not only has an inhibitory effect on the mitosis (cell division) of the child, but also a damaging effect on the Purkinje cells of the embryonic cerebellum, which are responsible for the development of balance and muscle coordination. The causes of alcohol-related intrauterine damage, such as fetal alcohol syndrome, have not yet been precisely elucidated despite intensive research.
Symptoms, complaints, and signs
Fetal alcohol syndrome (FAS) is characterized by infantile malformations and deficiency development. In the head region, the following abnormalities may occur, such as microcephalus, ptosis, or epicanthus. A philtrum is also possible, which means that the furrow between the nose and the mouth is only slightly pronounced or completely absent. Sometimes the upper lip is thinly pronounced, the lower jaw underdeveloped. Short stature can already be seen in the womb. Furthermore, skeletal malformations such as a funnel chest are conceivable or a general reduction in the basic tension of the skeletal muscles (muscular hypotonia). The internal organs can also be affected by malformations such as heart defects or malformations of the kidneys. In addition to mental retardation, psychomotor agitation is a known symptom of the disorder. Numerous patients suffer from ADHD (attention deficit hyperactivity disorder) in addition to FAS. Information processing and perception are impaired. This leads to social withdrawal, restlessness, fear of new situations, exploitability and easy influence. Impulse control disorders, which lead to aggressive behavior, can also interfere with social life. Furthermore, hearing and visual disturbances may occur. Adult patients are also prone to depression, addictive disorders, and abnormalities in sexual behavior
Diagnosis and course
Fetal alcohol syndrome is diagnosed on the basis of characteristic symptoms. If necessary, maternal alcohol abuse can be detected as part of the history or by blood analysis (liver enzymes, ferritin). Imaging procedures such as sonography and magnetic resonance imaging can detect impairment of cerebral structures such as dysplasia (maldevelopment) of the cerebellum or ventricular system, as well as damage to the kidneys. Cardiological diagnostic procedures (ECG, cardiac catheterization) allow statements to be made about possible malformations of the heart.In addition, developmental tests and neuropsychological test methods allow an assessment of the cognitive, motor, social and linguistic abilities of the affected child. Fetal alcohol syndrome must be differentiated from Edwards syndrome (trisomy 18), Dubowitz syndrome or triplody by means of cytogenetic tests. The prognosis and course of fetal alcohol syndrome depend largely on the extent of the specific impairments present. Only one-fifth of children affected by fetal alcohol syndrome can attend normal school, while more than 30 percent are severely disabled.
Complications
Due to fetal alcohol syndrome, different complications occur in newborns. Usually, the children suffer from malformations and mental retardation, making them relatively limited in their daily life and complete life. In fetal alcohol syndrome, the main complication is growth disturbances. Thus, the children may suffer from short stature or malformations of the extremities. Concentration is also weakened, and many patients suffer from ADHD. In some cases, unfounded aggressiveness appears in the child. Alcohol consumption damages the heart muscle of the child, so in the course of life it can lead to disorders of the cardiovascular system and infarction. Fetal alcohol syndrome cannot be treated directly because it manifests in the womb. However, it is possible to treat the heart defects and other malformations and disorders. If treatment is started early, there are usually no noticeable negative concomitant symptoms. The physical and mental disabilities can be alleviated with various therapies. However, a complete cure is not possible. Often, fetal alcohol syndrome is also a great burden for the parents and leads to psychological discomfort for them as well.
When should you go to the doctor?
This syndrome requires treatment in any case. The sooner the alcohol addiction of the affected person is curtailed, the higher the chances of a positive course of the disease. It may then be possible to limit all the symptoms of this disease. A doctor should be consulted if the patient consumes alcohol during pregnancy. In this case, the addiction can be combated in the course of withdrawal. Psychologists and various clinics can also offer support in this regard. Furthermore, the help of friends and acquaintances is also very helpful. A doctor should be consulted if the child suffers from the symptoms of the syndrome. The symptoms can be very diverse, mostly they are malformations or disturbances in the development. The earlier these complaints are diagnosed, the higher the probability of recovery. Disturbances in growth and concentration should always be examined by a doctor. Unfounded aggressiveness or mental and psychological disabilities can also be symptoms. In most cases, the disease is diagnosed by a pediatrician or by a general practitioner. Treatment depends on the severity of each symptom and is performed by different specialists.
Treatment and therapy
Fetal alcohol syndrome cannot be treated causally. Somatic impairments such as facial anomalies (including cleft palate or cleft lip) or organic maldevelopments (heart defects), as well as visual and hearing impairments, can be partially corrected surgically. If favorable contextual and environmental conditions are present, the developmental deficits can be partially compensated or existing potentials can be activated. To compensate for the cognitive, linguistic, psychomotor and/or social developmental deficits, early childhood support measures are required, which generally consist of physiotherapy (sensory motor skills), ergotherapy (action skills through occupational therapy), speech (tongue motor skills, saliva control) and dysphagia therapy (swallowing therapy), music therapy, hippotherapy (therapeutic riding), motopedics (movement therapy) and sensory integration in the case of insufficient processing of external stimuli or disorders of the sensory organs. Excessive “therapy” of the affected child should be avoided here. In addition, integration aids such as school accompaniment are recommended for children with fetal alcohol syndrome.In the case of pronounced hyperactivity or ADHD as a result of fetal alcohol syndrome, psychotropic medications such as methylphenidate (including Ritalin and Medikinet) are also used in some cases. In addition, the family or social environment of affected children, about two-thirds of whom grow up in homes or foster families, should be comprehensively informed and counseled about the specifics of fetal alcohol syndrome and, if necessary, provided with psychological support.
Outlook and prognosis
Fetal alcohol syndrome is a noncurable disorder. Alcohol consumption by the mother during pregnancy causes permanent and irreparable damage to the unborn child. In most cases, the specific mental and physical impairments remain lifelong. The behavioral abnormalities and developmental disorders belong to long-term irregularities that require individual assessment. Therefore, the prognosis depends on the extent of the existing disorders and are different for each patient. With early treatment and support of the child immediately after birth, optimizations can be achieved that contribute to an improved lifestyle. However, in severe cases, even in adulthood, the patient is unable to manage life independently without the help of caregivers or relatives. Often, children with fetal alcohol syndrome need to be hospitalized for an extended period of time. Especially in the first two years of life, they suffer more often from infectious diseases or developmental disorders that require medical care. In the case of malformations, surgical interventions are performed to help alleviate the symptoms. Since in a large number of cases the mother’s alcohol consumption indicates a social problem on the part of the parents, it must also be clarified where the child is best cared for. If the parents cannot care sufficiently, a stay in foster families or homes is necessary.
Prevention
Fetal alcohol syndrome can be prevented by complete abstinence from alcohol during pregnancy. Individual and community education about the risks of alcohol use during pregnancy and early prevention or treatment of alcohol abuse represent more extensive preventive measures for fetal alcohol syndrome.
Follow-up
The options for follow-up care are severely limited in most cases of alcohol syndrome. In this regard, alcohol syndrome should be treated even before the child is born to prevent defects and malformations on the child’s body. The further defects after birth can only be treated symptomatically, but not causally, so that a complete cure is usually not possible. The aftercare itself depends on the exact symptoms and their severity that occur in the child. In most cases, children are dependent on physiotherapy or physical therapy. Many of the exercises from such therapies can also be performed independently at home, which accelerates the healing process. Furthermore, it is not uncommon to have to take medication to alleviate the symptoms. Care must be taken to ensure that the correct dosage is used and that the medication is taken regularly in order to alleviate the symptoms in the long term. In most cases, patients with alcohol syndrome are also dependent on psychological treatment and also need the help and support of friends and their own family in their everyday lives. The life expectancy of the child is also reduced in many cases.
Here’s what you can do yourself
In fetal alcohol syndrome, physical and mental impairment of the child occurs due to the alcohol consumption of the pregnant woman. What patients or those responsible for the care of affected children can do themselves depends on the specific symptoms and severity of the impairment. If the child’s cognitive abilities are impaired, adequate early intervention is important. Targeted educational and psychological support measures can have a positive influence on the child’s mental development. If the child has difficulty speaking, speech therapy under the guidance of a speech therapist should be started in good time. This can also help the child to improve the often disturbed tongue motor skills and saliva control.In the case of physical maldevelopment, especially underdevelopment of various muscle groups or motor disorders, developmental deficits can be at least partially compensated for by physiotherapy. Occupational therapy approaches aimed at improving action skills in everyday life also promote age-appropriate development. The children very often cannot attend a normal elementary school. Even many kindergartens are not able to provide adequate care for them. The persons who are responsible for the care of a child suffering from fetal alcohol syndrome must therefore take care of the (pre-) school integration in time. If the children suffer emotionally from their disability, especially from their often striking external appearance and the reaction of the environment to it, a child psychologist should be consulted in good time.
