MCQ Snacks (Free Trial)- Pediatric Superspeciality

The correct answer is "All of the above." Dystrophia myotonica is a genetic disorder caused by a CTG repeat mutation in the myotonin protein kinase gene. It is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. Therefore, all three statements are true about Dystrophia myotonica.

Myoclonic seizures in neonates have been associated with a poor prognosis. These seizures are characterized by brief, rapid, and jerky movements of the limbs or body. They can be generalized or focal in nature. Neonatal myoclonic seizures are often difficult to control and may be a sign of an underlying neurological disorder. The poor prognosis is likely due to the underlying cause of the seizures and the potential for long-term neurological deficits.

Hypothyroidism: short limb dwarfism

The question is asking for the familial cause of neonatal respiratory distress. The correct answer is "None" because all of the options listed (Pulmonary alveolar proteinosis, Alveolar capillary dysplasia, and Acinar dysplasia) are known to have a familial cause. Therefore, none of the options are exceptions to being a familial cause of neonatal respiratory distress.

The Expanded New Ballard Score is a method used to assess the gestational age of newborn infants. It involves evaluating physical and neurological characteristics to estimate the baby's age. The score is applicable for infants between 20 and 44 weeks of gestation. This wide range allows for a more accurate assessment of gestational age, as it covers both premature and full-term infants. The other options provided in the question either exclude certain weeks or do not cover the entire range of gestational age for which the Expanded New Ballard Score is used.

"aEEG [Amplitude integrated EEG" is used not "bEEG"

Incontinentia pigmenti is a genetic disorder that affects the skin, hair, teeth, and nails. Delayed dentition is one of the characteristic features of this condition, which means that children with incontinentia pigmenti may have a delay in the eruption of their teeth. Cooing is a stage of vocal development in infants, which typically begins around 3 months of age. M-CHAT (Modified Checklist for Autism in Toddlers) is a screening tool used to identify early signs of autism spectrum disorder in young children. Methylphenidate is a commonly used medication for the treatment of attention deficit hyperactivity disorder (ADHD). Therefore, options A, B, C, and D are all correct.

Small head is seen in seckel syndrome

Bifidus factor protects against Shigella ,salmonella and E.coli

TRMA syndrome : AR, SLC19A2 mutation, Diabetes mellitus and Sensory neural hearing ,oss