A 3-year-old boy is brought to the physician for evaluation of delayed milestones. Over the past year, he has been receiving physical and speech therapies for delays in gross motor skills and speech. He is currently able to walk up and down stairs and run well. He has a vocabulary of approximately 25 words and does not make 2-word sentences. His parents report that he has poor eye contact and does not show interest in engaging with other children. Review of systems is otherwise negative. His vaccinations are up to date. He has an uncle with Down syndrome and a cousin with autism. Head circumference, length, and weight are each at the 5th percentile. Examination of the face shows small palpebral fissures, absent philtrum, and a thin upper lip border. What is the underlying cause of his problems?

Question

A 3-year-old boy is brought to the physician for evaluation of delayed milestones.  Over the past year, he has been receiving physical and speech therapies for delays in gross motor skills and speech.  He is currently able to walk up and down stairs and run well.  He has a vocabulary of approximately 25 words and does not make 2-word sentences.  His parents report that he has poor eye contact and does not show interest in engaging with other children.  Review of systems is otherwise negative.  His vaccinations are up to date.  He has an uncle with Down syndrome and a cousin with autism.  Head circumference, length, and weight are each at the 5th percentile.  Examination of the face shows small palpebral fissures, absent philtrum, and a thin upper lip border.  What is the underlying cause of his problems?

Quizplus · Accepted Answer

Fetal alcohol syndrome (FAS) is one of the leading preventable causes of birth defects and neurodevelopmental problems. Although in utero alcohol exposure may result in no apparent sequelae for some fetuses, others may suffer from FAS or be stillborn. Women who are pregnant or trying to conceive should be advised to abstain completely from alcohol as there is no known safe amount of prenatal alcohol consumption. FAS is characterized by 3 pathognomonic facial dysmorphisms: facial dysmorphisms Small palpebral fissuresSmooth philtrum (vertical groove above the upper lip)Thin vermilion border Small palpebral fissures Smooth philtrum (vertical groove above the upper lip) Thin vermilion border Height and/or weight growth is compromised with percentiles <10th for age and sex. Microcephaly is often present, and these children suffer from cognitive and behavioral disorders. The phenotypic range of neurodevelopmental problems is wide and includes intellectual disability, attention-deficit hyperactivity disorder, social withdrawal, and delays in motor and language milestones. This child has appropriate gross motor skills for a 3-year-old, but his language is comparable to that of an 18-month-old. He also has socialization problems resembling autism spectrum disorder. Early diagnosis is critical for affected children to benefit from aggressive speech, physical, and occupational therapies. < (Choices B and G) Down syndrome is the most common genetic cause of developmental delay and usually results from meiotic nondisjunction of chromosome 21. Fragile X syndrome is the most common X-linked inherited cause of intellectual disability. Both of these syndromes can be distinguished from FAS by careful physical examination (Table). 11ec25c8_d6eb_fead_bc81_839f61c179b3_MD0003_00 (Choice A) There is no evidence that vaccinations cause cognitive or behavioral problems. (Choice D) Cytomegalovirus is the most common congenital viral infection and can also cause developmental delay. However, other characteristic problems include sensorineural deafness, blindness, jaundice, hepatosplenomegaly, and petechiae. (Choice E) Hypoplastic fingers/nails and cleft lip/palate are classic physical findings in fetal hydantoin syndrome. Pregnant women on phenytoin during their last trimester often receive prophylactic vitamin K to prevent neonatal bleeding as phenytoin may increase the rate of fetal vitamin K degradation. Phenytoin is not associated with the dysmorphic facies seen in this patient. (Choice F) In addition to developmental delay, congenital rubella syndrome is characterized by sensorineural deafness, cataracts, hepatosplenomegaly, and purpura. Educational objective: Fetal alcohol syndrome is one of the most common preventable causes of birth defects, behavioral problems, and cognitive impairment. The pathognomonic facial features are small palpebral fissures, smooth philtrum, and thin vermilion border. References: A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 Institute of Medicine criteria. (http://www.ncbi.nlm.nih.gov/pubmed/15629980) American Academy of Pediatrics. Committee on Substance Abuse and Committee on Children With Disabilities. Fetal alcohol syndrome and alcohol-related neurodevelopmental disorders. (http://www.ncbi.nlm.nih.gov/pubmed/10920168)

A 3-Year-Old Boy Is Brought to the Physician for Evaluation