What is FACS?
FACS (or the relevant syndrome) occurs when the anti-seizure medication that was taken by the childbearing person during pregnancy crosses the placenta and into the developing foetus. The diagnosis of FACS/respective individual syndrome, (depending on what anti-seizure medication was taken) can only be made by a specialist, when the childbearing person, took the specific anti-seizure medication(s) during pregnancy and has a child with a combination of physical malformations, dysmorphic (facial) features, neurodevelopment or cognitive difficulties, and no other cause can be found for these difficulties e.g., genetic syndromes. With Fetal Valproate Spectrum Disorder (FVSD) the facial features do not need to be present to have been affected by the medication.
When a diagnosis of FACS is made many variables are considered, such as the dosage of the anti-seizure medication (higher dosages carry increased risks), the anti-seizure medication itself (higher risks are associated with sodium valproate), and whether the anti-seizure medication was monotherapy (only a single type of anti-seizure being used) or polytherapy (more than one type of anti-seizure being used). When there is a child(ren) in the family with a confirmed diagnosis of FACS, and the childbearing person was on the same treatment regime as the confirmed child(ren), there is an increased risk of having another child with FACS.
Research has often shown that the most “at risk” times are during the first three months of pregnancy (as this is when the major congenital malformations would take place) and though this is still true, research is now showing that exposure to the anti-seizure medication during any time in the pregnancy can be problematic. Of particular concern is sodium valproate (Epilim®), as there is an increased risk of neurodevelopmental difficulties, which can include Autism Spectrum Disorder, Attention Deficit Hyperactivity Disorder (ADHD), or dyspraxia. There are also reports of lower intelligence and educational achievements when more than one anti-seizure medication is used at the same time during pregnancy.
Individual syndromes can occur when exposed to a single anti-seizure medication during pregnancy. This includes, but not limited to, Fetal Valproate Syndrome/Fetal Valproate Spectrum Disorder, Fetal Carbamazepine Syndrome, Fetal Hydantoin Syndrome, and Fetal Primidone Syndrome. The most researched syndrome is Fetal Valproate Syndrome/Fetal Valproate Spectrum Disorder, but there is still so much research needed.
Key Syndrome Characteristics
FACS needs to be diagnosed by an informed specialist when the child bearing person has taken anti-seizure medicines during pregnancy and has a baby/child with a combination of dysmorphic (facial) features, physical malformations and/or neurodevelopmental or cognitive impairments, and there is no other reason for these difficulties/impairments.
Fetal Valproate Syndrome / Fetal Valproate Spectrum Disorder
Fetal Valproate Syndrome (FVS) or Fetal Valproate Spectrum Disorder (FVSD), occurs when sodium valproate (Epilim®), has affected the baby during pregnancy. Every affected person presents differently, which means the symptoms or characteristics will differ. The list below provides guidance but does not include every symptom a person with FVS/FVSD may have. Research is continuing to grow on FVS/FVSD; however, this takes time. Note this is not a checklist where everything needs to be ticked off, rather a list of common characteristics seen in people with FVS/FVSD:
Congenital or other anomalies
Dysmorphic facial features. NOTE: It is possible to have FVSD and not have any dysmorphic facial features.
Heart defects.
Cleft lip or cleft palate.
Malformations of any organ and/or limb.
Eye anomalies.
Hypospadias (only in boys).
Neural tube defects or spina bifida.
Respiratory tract anomalies.
Cerebral palsy or other difficulties relating to the cerebellum.
Dental problems such as small, peg like teeth closely packed together or less common dental agenesis (missing teeth).
Neurodevelopment, learning and development
Autism Spectrum Disorder.
Attention difficulties, which could include ADHD.
Cognitive difficulties, and/or lower IQ.
Working memory difficulties, and/or other memory problems.
Learning difficulties which could include dyslexia, dyspraxia, or other processing difficulties for example visual processing difficulties, auditory processing disorder.
Speech and language difficulties or delays.
Difficulties with social skills.
Physical
Developmental delay, which could be global, or include walking and talking.
Gross motor difficulties and/or fine motor difficulties.
Hearing problems due to recurrent ear infections.
Low muscle tone (hypotonia).
Whilst the characteristics or symptoms have been divided into Congenital or other anomalies, Neurodevelopment, learning and development and Physical, often these different areas are intertwined with one another.
Fetal Carbamazepine Syndrome
Fetal Carbamazepine Syndrome (FCS) occurs when carbamazepine, otherwise known as Tegretol® in New Zealand, has affected the foetus during pregnancy, which can result in some of the following characteristics or symptoms (Note: this is not a checklist)
Dysmorphic facial features.
Nail abnormalities, such as hypoplastic nails (underdevelopment or absence of nails)
Congenital malformations, particularly heart, cleft lip or cleft palate.
If combined with sodium valproate risks can include:
Developmental delays.
Higher risk of congenital malformations.
Fetal Hydantoin Syndrome
Fetal Hydantoin Syndrome (FHS) occurs when phenytoin or known as Dilantin® in New Zealand has affected the baby during pregnancy, which can result in some of the following characteristics or symptoms (Note: this is not a checklist):
Dysmorphic facial features.
Finger and nail abnormalities, such as hypoplastic nails.
Small size during pregnancy or after birth.
Lower IQ.
Developmental delays.
Cleft lip or cleft palate.
Congenital malformations.
Fetal Primidone Syndrome
Fetal Primidone Syndrome occurs when primidone or known as Apo-Primidone® in New Zealand has affected the baby during pregnancy. There is not much known about this syndrome, but there is a link between congenital malformations and exposure to primidone during pregnancy.