Developmental and Behavioral Pediatrics Practice Questions

Q: The picture depicts characteristic facial features of a child including a long face, prominent forehead, large ears, and prominent jaw. This disorder is also associated with intellectual disability, autistic behavior, and macroorchidism. Which syndrome is being described?

Fragile X syndrome. ***Fragile X syndrome*** - The constellation of **long face**, **prominent forehead**, **large ears**, and **prominent jaw** are classic facial features of Fragile X syndrome. - The association with **intellectual disability**, **autistic behavior**, and **macroorchidism** (large testes) further confirms Fragile X syndrome, which is caused by a trinucleotide repeat expansion in the *FMR1* gene. *Down syndrome* - Characterized by distinct facial features such as a **flat facial profile**, **upslanting palpebral fissures**, **epicanthic folds**, and a **single palmar crease**. - While it causes intellectual disability, it does not typically present with a long face, large ears, or macroorchidism. *Klinefelter syndrome* - Patients typically present with **tall stature**, **small testes** (hypogonadism), **gynecomastia**, and often some degree of learning disability, but not the specific facial features or macroorchidism described. - This syndrome is due to an extra X chromosome (47, XXY). *Prader-Willi syndrome* - Characterized by **obesity**, **hypotonia** in infancy, **hyperphagia**, and mild to moderate intellectual disability. - Facial features include a **narrow forehead**, small hands and feet, and almond-shaped eyes, which differ from those described in the question.

Q: A 2-year-old child presents with developmental delay and hypotonia. The following image shows:

Down syndrome. ***Down syndrome*** - **Down syndrome** commonly presents with **developmental delay** and **hypotonia** in early childhood, which matches this 2-year-old's clinical presentation. - Characteristic facial features include **upward-slanting palpebral fissures**, **flat nasal bridge**, **epicanthal folds**, and **macroglossia** (large protruding tongue), though individual features may vary. *Cardiofacial syndrome* - **Cardiofacial syndrome** (DiGeorge syndrome/22q11.2 deletion) presents with **cardiac defects**, **cleft palate**, and **micrognathia** (small jaw). - The facial dysmorphism pattern differs significantly from Down syndrome, typically showing **narrow palpebral fissures** and **tubular nose**. *Noonan syndrome* - **Noonan syndrome** features include **webbed neck**, **hypertelorism** (widely spaced eyes), **ptosis**, and **low-set posterior hairline**. - Associated with **pulmonary stenosis** and **short stature**, but the facial phenotype is distinct from Down syndrome features. *Dandy-Walker syndrome* - **Dandy-Walker syndrome** is a **posterior fossa malformation** affecting cerebellar development and ventricular system. - Presents primarily with **neurological symptoms** like developmental delay and **macrocephaly**, but lacks distinctive facial dysmorphic features.

Q: During evaluation of intellectual disability, characteristic facies of the child as below is noted. There is a family history of intellectual disability also. What is the probable diagnosis?

Fragile X syndrome. ***Fragile X syndrome*** - The image depicts a male with an **elongated face**, **prominent jaw**, and **large, protuberant ears**, which are classic facial features of Fragile X syndrome. - The presence of **intellectual disability** and a **family history** reinforces this diagnosis, as Fragile X is the most common inherited cause of intellectual disability. *Down syndrome* - Characterized by a **round face**, **upward-slanted palpebral fissures**, **epicanthal folds**, and a **flat nasal bridge**, none of which are evident in the image. - Typically results from **trisomy 21** and is not primarily linked to a family history of intellectual disability in an X-linked pattern. *Klinefelter syndrome* - While individuals with Klinefelter syndrome (XXY genotype) may have **intellectual disability** (usually mild), their characteristic features include **tall stature**, **small testes**, **gynecomastia**, and often a **less distinctive facial phenotype** compared to the one shown. - The facial features in the image (prominent jaw, large ears, elongated face) are not typical for Klinefelter syndrome. *Turner syndrome* - Affects females (XO genotype) and is associated with features such as **webbed neck**, **short stature**, **low posterior hairline**, and **gonadal dysgenesis**. - It does not present with the facial features shown in the image, nor does it typically manifest with a family history of intellectual disability in males.

Q: A child presents with complaints of bed wetting. What is the first line of treatment?

Bed alarm technique. ***Bed alarm technique*** - The **bed alarm technique** is considered the most effective first-line treatment for **nocturnal enuresis** in children. - It works through **classical conditioning**, training the child to wake up in response to bladder fullness. *Motivational therapy* - **Motivational therapy** can be a useful adjunct to other treatments, but it is not typically the sole **first-line therapy** due to varying effectiveness. - It focuses on building the child's confidence and encouraging dryness but does not directly address the physiological aspects of bedwetting. *Oxybutynin* - **Oxybutynin** is an anticholinergic medication that can reduce bladder contractions and increase bladder capacity. - It is usually reserved for cases where **bedwetting alarms** and **desmopressin** have been ineffective, or when there is an identifiable **overactive bladder component**. *Desmopressin* - **Desmopressin** is an antidiuretic hormone analogue that reduces urine production during the night. - While effective, it is often considered a **second-line treatment** after behavioral interventions like the bed alarm, or when rapid but temporary improvement is desired.

Q: What are the reading and writing skills of a child with moderate intellectual disability?

Basic. ***Basic*** - Children with **moderate intellectual disability** can often achieve **basic reading and writing skills**, such as recognizing simple words and writing their name. - This level of skill might allow them to understand **simple written instructions** or basic functional communication. *Reasonable* - **"Reasonable"** reading and writing skills would imply a level of proficiency typically seen in individuals without intellectual disabilities or those with very mild forms, which is beyond the expected capabilities for **moderate intellectual disability**. - This term is **too vague** and generally implies a higher level of comprehension and expression than is characteristic of moderate intellectual impairment. *Minimal* - While their skills are limited, "minimal" often suggests an **even lower level of ability** — perhaps only recognizing a few letters or symbols. - Children with moderate intellectual disability can typically progress beyond this to acquiring a **functional basic literacy**. *None* - Stating "none" would be inaccurate, as most individuals with **moderate intellectual disability** are capable of acquiring some level of **functional literacy**, even if it is very basic. - Total absence of reading and writing skills is more commonly associated with **severe or profound intellectual disability**.

Q: A two year old girl child is brought to the out patient with features of hand wringing stereotype movements, impaired language and communication development, breath holding spells, poor social skills and deceleration of head growth after 6 months of age. The most likely diagnosis is –

Rett's syndrome. ***Rett's syndrome*** - The constellation of **hand-wringing stereotype movements**, language impairment, poor social skills, and **deceleration of head growth** after 6 months of age in a female child is highly characteristic of Rett's syndrome. - This neurodevelopmental disorder is almost exclusively seen in girls and is caused by a mutation in the **MECP2 gene**. *Asperger's syndrome* - Asperger's syndrome (now part of **Autism Spectrum Disorder**) typically presents with difficulties in social interaction and nonverbal communication, alongside restricted and repetitive patterns of behavior and interests. - However, it does not usually involve **seizures, loss of purposeful hand use, or acquired microcephaly**, which are key features of Rett's syndrome. *Fragile x–syndrome* - Fragile X syndrome is a genetic condition causing intellectual disability, most commonly in males, characterized by a **long face, prominent jaw and ears**, and **macroorchidism** (large testicles) in post-pubertal males. - It does not specifically feature the unique hand stereotypes or decelerated head growth seen in Rett's syndrome. *Colorado syndrome* - **Colorado syndrome** is not a recognized medical diagnosis for such a clinical presentation. - The symptoms described do not align with any known neurological or developmental disorder named "Colorado syndrome."

Q: All are used in the treatment of nocturnal enuresis except?

Voiding of urine before sleeping. ***Voiding of urine before sleeping*** - **Voiding before sleep** is a **general hygiene measure and preventive advice** rather than a specific therapeutic intervention for nocturnal enuresis. - While it may reduce bladder volume at bedtime, it does **not address the underlying pathophysiology** of nocturnal enuresis (arousal deficit, nocturnal polyuria, or detrusor overactivity). - It is **routine advice** given to all children, not a targeted treatment modality for curing enuresis. *Imipramine* - **Imipramine**, a tricyclic antidepressant, is an established **pharmacological treatment** for nocturnal enuresis. - Its mechanisms include: **anticholinergic effects** (increasing bladder capacity and functional bladder capacity), **alpha-adrenergic effects** (increasing bladder outlet resistance), and **antidiuretic effects**. - Typical dosing: **25-50 mg at bedtime**, with success rates of 40-60%. *Alarm setup* - **Bed-wetting alarms** are the **first-line behavioral therapy** with the highest long-term cure rates (60-70% success). - Works through **classical conditioning**: the alarm triggers when moisture is detected, training the child to either wake to void or develop nocturnal bladder control. - Requires **8-12 weeks** of consistent use and has the lowest relapse rates among treatments. *Maintenance of calendar of day night wetting* - **Voiding diary/calendar** is an essential **behavioral intervention** for monitoring and managing nocturnal enuresis. - Helps identify patterns, track treatment progress, and provides **positive reinforcement** through visual feedback. - Part of comprehensive behavioral management alongside fluid restriction and scheduled voiding during daytime.

Q: True regarding breath holding spells are all EXCEPT:

Antiepileptic treatment is necessary. ***Antiepileptic treatment is necessary*** - **Breath-holding spells** are a benign phenomenon and do not require **antiepileptic treatment**. This is a key distinguishing factor from seizure disorders. - Management typically involves reassurance, parental education, and addressing any potential underlying triggers like **iron deficiency anemia**. *Attacks of cyanosis can occur* - In **cyanotic breath-holding spells**, the child becomes blue due to a period of apnea and bradycardia, following a trigger like pain or fear. - This is a common and characteristic presentation, often alarming for parents but generally without long-term sequelae. *Occurs between 6 months to 5 years age* - **Breath-holding spells** typically manifest during infancy and toddlerhood, with peak incidence between 6 months and 2 years, often resolving by age 5. - This age range reflects the developmental stage where children are beginning to express strong emotions and reactions to stimuli. *Iron deficiency anemia is a risk factor* - **Iron deficiency anemia** is a recognized risk factor for breath-holding spells, and treating the anemia can reduce the frequency and severity of the spells. - The exact mechanism is not fully understood but may involve effects on neurotransmitter function or cardiovascular regulation.

Q: Nocturnal enuresis should be investigated and treated after:

5 years. ***Correct: 5 years*** - **Nocturnal enuresis** is considered a normal developmental stage in children under 5 years of age - **DSM-5 and ICCS guidelines** specify that enuresis diagnosis requires the child to be at least **5 years old** (or equivalent developmental level) - Investigation and treatment are typically initiated after this age to rule out underlying medical conditions such as **urinary tract infections, diabetes, or anatomical abnormalities** - By 5 years, most children have achieved nighttime bladder control, making persistent bedwetting clinically significant *Incorrect: 2 years* - At 2 years, **bladder control** is still developing and **nocturnal enuresis** is universal and completely normal - Most children at this age have not yet achieved even daytime continence - No intervention or investigation is warranted at this developmental stage *Incorrect: 3 years* - By 3 years, some children may achieve nighttime continence, but **bedwetting remains very common** and developmentally normal - Intervention at this age is not recommended unless there are specific concerning symptoms like daytime incontinence or urinary stream abnormalities *Incorrect: 4 years* - While many children develop bladder control by 4 years, **nocturnal enuresis** can still be a normal occurrence - Most pediatric guidelines suggest waiting until **5 years of age** before considering bedwetting a clinical issue requiring formal investigation

Q: Most common cause of death in Rett syndrome is

Respiratory failure. ***Respiratory failure*** - In **Rett syndrome**, severe **scoliosis** and **kyphosis** can restrict lung capacity and lead to chronic breathing difficulties, predisposing to respiratory failure. - Abnormal breathing patterns, such as **apnea** and hyperventilation, are common in Rett syndrome and can contribute to respiratory complications and increased risk of respiratory compromise. - Additional risk factors include aspiration and impaired airway clearance. *Cardiac arrhythmias* - While **cardiac issues**, particularly **QT prolongation**, are recognized in Rett syndrome, they are not the most common direct cause of death. - Cardiac arrhythmias are a significant concern but rank below respiratory failure in mortality statistics for this condition. *Hypoglycemia* - **Hypoglycemia** is not a characteristic feature or a common cause of death in individuals with Rett syndrome. - Although metabolic issues can occur in some genetic conditions, hypoglycemia is typically not associated with Rett syndrome. *Seizures* - While **seizures** are very common in Rett syndrome, affecting up to 80% of individuals, they are rarely the direct cause of death. - Long-term seizure control is usually managed with medication, and while status epilepticus can be life-threatening, it is less common than other causes of death.

Question 1

The picture depicts characteristic facial features of a child including a long face, prominent forehead, large ears, and prominent jaw. This disorder is also associated with intellectual disability, autistic behavior, and macroorchidism. Which syndrome is being described?

Accepted Answer

Fragile X syndrome

Answer

Down syndrome

Answer

Klinefelter syndrome

Answer

Prader-Willi syndrome

Question 2

A 2-year-old child presents with developmental delay and hypotonia. The following image shows:

Accepted Answer

Down syndrome

Answer

Cardiofacial syndrome

Answer

Noonan syndrome

Answer

Dandy-Walker syndrome

Question 3

During evaluation of intellectual disability, characteristic facies of the child as below is noted. There is a family history of intellectual disability also. What is the probable diagnosis?

Accepted Answer

Fragile X syndrome

Answer

Down syndrome

Answer

Klinefelter syndrome

Answer

Turner syndrome

Question 4

A child presents with complaints of bed wetting. What is the first line of treatment?

Accepted Answer

Bed alarm technique

Answer

Motivational therapy

Answer

Oxybutynin

Answer

Desmopressin

Question 5

What are the reading and writing skills of a child with moderate intellectual disability?

Accepted Answer

Basic

Answer

Reasonable

Answer

Minimal

Answer

None

Question 6

A two year old girl child is brought to the out patient with features of hand wringing stereotype movements, impaired language and communication development, breath holding spells, poor social skills and deceleration of head growth after 6 months of age. The most likely diagnosis is –

Accepted Answer

Rett's syndrome

Answer

Asperger's syndrome

Answer

Fragile x–syndrome

Answer

Colorado syndrome

Question 7

All are used in the treatment of nocturnal enuresis except?

Accepted Answer

Voiding of urine before sleeping

Answer

Imipramine

Answer

Alarm setup

Answer

Maintenance of calendar of day night wetting

Question 8

True regarding breath holding spells are all EXCEPT:

Accepted Answer

Antiepileptic treatment is necessary

Answer

Attacks of cyanosis can occur

Answer

Occurs between 6 months to 5 years age

Answer

Iron deficiency anemia is a risk factor

Question 9

Nocturnal enuresis should be investigated and treated after:

Accepted Answer

5 years

Answer

2 years

Answer

3 years

Answer

4 years

Question 10

Most common cause of death in Rett syndrome is

Accepted Answer

Respiratory failure

Answer

Cardiac arrhythmias

Answer

Hypoglycemia

Answer

Seizures

Developmental and Behavioral Pediatrics — MCQs

Developmental and Behavioral Pediatrics — MCQs

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