Fetal alcohol syndrome refers to the growth, mental, and physical problems that may occur in a baby when a mother drinks alcohol during pregnancy. It can cause failure to thrive, developmental delays, organ dysfunction, epilepsy, poor growth, decreased muscle tone, heart defects, facial abnormalities, respiratory issues, low birth weight, small head circumference, poor motor skills, learning difficulties, and behavioral problems. The diagnosis requires growth deficiency, a characteristic facial pattern, and central nervous system dysfunction.

1. Lecture notes 7: FAS
Definition:Fetal alcohol syndrome referstothe growth,mental,andphysical problemsthatmay
occur in a babywhena motherdrinksalcohol duringpregnancy.
Types inthe Spectrum
 Fetal Alcohol Syndrome (FAS),
 partial Fetal Alcohol Syndrome (pFAS),
 Alcohol-RelatedBirthDefects(ARBD)
 Alcohol-RelatedNeurodevelopmental Disorder(ARND)
Clinical Features
• Failure to thrive due to being premature
• Developmental delays
• Organ dysfunction
• Epilepsy
• Poor growth while the baby is in the womb and after
birth
• Decreasedmuscle tone and poor coordination
• Heart defects
• Structural problemswiththe face
• Difficultieswiththeirrespiratory system
• low birth weight
• small headcircumference
• poor coordination/fine motor skills
• poor socializationskills
• Learning difficulties
• Behavioural problems

2. 7 Domains
• Cognition
• Adaptation
• Executive function
• Memory
• Communication
• Attention
• Achievement
Criteriafor Diagnosis
a) growth deficiency:lowbirthweightand/ordeceleratingweightovertime notdue to
nutrition
b) characteristic pattern of facial anomalies: shortpalpebral fissures,flattenedphiltrum, thin
upperlip,flatmidface
c) central nervoussystem dysfunction:microcephalyand/orneurobehavioural dysfunction
(hyperactivity,finemotorproblems,attentiondeficits,learningdisabilities,cognitive
disabilities,difficultiesinadaptive functioning,etc.

3. Spina Bifida
Definition:Disordercausedbythe incompleteclosingof the embryonicneural tube. Some
vertebrae overlyingthe spinalcord are not fullyformedandremainunfusedandopen. If the
openingislarge enough,thisallowsaportionof the spinal cordto protrude throughthe opening
inthe bones.
Other definitions:
Meningo- Meninges
Myelo- Nerve Sheaths
Cele- Tumor/Cyst/Sac
Embryology
• Spinabifidaiscausedbythe failure of the neural tube toclose duringthe firstmonth
of embryonicdevelopment(oftenbefore the motherknows she ispregnant).
• Under normal circumstances,the closure of the neural tube occursaroundthe 23rd (rostral
closure) and27th (caudal closure) dayafter fertilization.
Etiology:
• Maternal diabetes
• Familyhistory
• Obesity
• Increasedbodytemperature
fromfeveror external sourcessuchas
hot tubsand electricblanketsmay
increase the chancesof deliveryof a
babywitha spinabifida.
• Medicationssuchas
some anticonvulsants.
• PregnantwomentakingValproicacid
have an increasedriskof having
childrenwithspinabifida
• Geneticbasis.
• Folicaciddeficiency
Types
 SpinaBifidaOcculta
 SpinaBifidaCysticaWithMeningocele(Aperta)
 SpinaBifidaCysticaWithMyelomeningocele. (Aperta)

4. Spina BifidaOcculta
• congenital absence of aspinousprocessandavariable amountof lamina
• novisible exposureof meningesorneural tissue
Clinical Features
• noobviousclinical signs
• presence of lumbosacral cutaneousabnormalities(dimple,sinus,port-wine
stain,or hair tuft)
Investigations
• plainfilm:absence of the spinousprocessalongwithminoramountsof the neural arch
• U/S,MRI to exclude spinalanomalies
Treatment
• requiresno treatment
MENINGOCELE(SPINABIFIDA APERTA)
Definition
• herniationof meningeal tissue andCSFthrougha defectinthe spine,without
associatedherniationof neural tissue
Clinical Features
• mostcommonin lumbosacral area
• usuallynodisability, lowincidence of associatedanomaliesandhydrocephalus
Investigations
• plainfilms,CT,MRI,U/S, echo,genitourinary(GU) investigations
Treatment
• surgical excisionandtissue repair(excellentresults)

5. MYELOMENINGOCELE(SPINABIFIDA APERTA)
Definition
• herniationof meningeal andNerve sheath througha defectinthe spine
Clinical Features
• sensoryandmotorchangesdistal to anatomiclevel producingvaryingdegrees
of weakness
• urinaryandfecal incontinence
• 65-85% of patientswithmyelomeningocele have hydrocephalus
• mosthave Type II Chiari malformation
Investigations
• plainfilms,CT,MRI,U/S, echo,GU investigations
Treatment
• surgical closure topreserve neurologicstatusandpreventCNSinfections
• closure in-uteroshowntodecrease hydrocephalusandimprove postnatal motorscores
Diagnosis:
 alpha-fetoprotein(AFP)
 Maternal Serumalpha-fetoprotein(MSAFP
 Ultrasound
 Amniocentresis
Complications
• Difficultdeliverywithproblemsresultingfromatraumatic birth,includingcerebral palsyand
decreasedoxygentothe brain
• Frequenturinarytractinfections
• Hydrocephalus
• Loss of bowel orbladdercontrol
• Meningitis
• Permanentweaknessorparalysisof legs