Developmental and Behavioral Pediatrics Practice Questions

Q: A 3-year-old child presents with diurnal enuresis and soiling of clothes. What is the required treatment?

Behavior modification. **Explanation:** The clinical presentation of a 3-year-old with diurnal (daytime) enuresis and soiling (encopresis) is most commonly related to **functional voiding dysfunction** or a lack of established toilet training, rather than structural abnormalities. **Why Behavior Modification is Correct:** At age 3, many children are still in the process of achieving full bladder and bowel control. **Behavior modification** is the first-line management. This includes timed voiding (scheduled bathroom trips every 2 hours), positive reinforcement (reward systems), avoiding constipation (which often triggers both enuresis and soiling), and ensuring proper posture on the toilet. Since there are no signs of organic disease in the vignette, conservative behavioral therapy is the standard of care. **Why Other Options are Incorrect:** * **Urethroplasty:** This is a surgical procedure used to treat urethral strictures or hypospadias. It is not indicated for functional enuresis. * **Catheterization:** Indwelling catheters are used for acute urinary retention or neurogenic bladders. It does not treat the underlying cause of enuresis and increases the risk of UTIs. * **Circumcision:** While sometimes performed for recurrent balanitis or phimosis, it has no therapeutic role in treating enuresis or fecal soiling. **NEET-PG High-Yield Pearls:** * **Definitions:** Enuresis is defined as involuntary voiding in children old enough to have control (typically **>5 years** for nocturnal). * **Primary vs. Secondary:** Primary enuresis means the child was never dry; Secondary means they were dry for at least 6 months before restarting. * **Rule Out Constipation:** Chronic constipation is the most common cause of both daytime wetting and encopresis (overflow incontinence). * **Pharmacotherapy:** If behavior therapy fails in older children (>5-6 years), **Desmopressin** (for nocturnal enuresis) or **Oxybutynin** (for overactive bladder) may be used.

Q: What is the most common age group affected by infantile colic?

0-3 months. **Explanation:** Infantile colic is a common clinical condition characterized by paroxysms of irritability, fussing, or crying in an otherwise healthy, well-fed infant. It typically follows the **"Rule of Three" (Wessel’s Criteria):** crying for more than 3 hours a day, more than 3 days a week, for more than 3 weeks. **Why Option A is Correct:** Infantile colic is a self-limiting condition of early infancy. It typically begins at **2–3 weeks of age**, peaks at around **6 weeks**, and characteristically resolves by **3–4 months**. Therefore, the 0–3 month age group is the most commonly affected period. The exact etiology is unknown but is often attributed to gastrointestinal immaturity, gas, or behavioral temperament. **Why Other Options are Incorrect:** * **Options B, C, and D:** By 4 months of age, most cases of infantile colic have spontaneously resolved. Persistent crying beyond 4–6 months should prompt a clinical investigation for other underlying causes, such as Gastroesophageal Reflux Disease (GERD), cow’s milk protein allergy, or organic pathologies. **NEET-PG High-Yield Pearls:** * **Clinical Presentation:** Crying often occurs in the late afternoon or evening. The infant may draw up their legs, clench their fists, and have a red face. * **Management:** The primary approach is **parental reassurance** and education. There is no proven pharmacological cure, though techniques like "swaddling" or "white noise" may help. * **Red Flags:** If the infant has fever, vomiting, or poor weight gain, it is **not** colic. * **Differential:** Always rule out corneal abrasion or a hair tourniquet in an inconsolable infant.

Q: Which of the following findings is NOT true about Fragile X syndrome?

Pigmented nevi. **Explanation:** Fragile X syndrome is the most common cause of **inherited intellectual disability** and the most common single-gene cause of autism. It is caused by an expansion of the **CGG trinucleotide repeat** in the *FMR1* gene on the X chromosome, leading to the silencing of the FMRP protein. **Why "Pigmented nevi" is the correct answer:** Pigmented nevi (or Café-au-lait spots) are characteristic of **Neurofibromatosis Type 1 (NF1)**, not Fragile X syndrome. While Fragile X involves connective tissue dysplasia, it does not typically present with specific dermatological pigmentary lesions like nevi. **Analysis of incorrect options:** * **Large testis (Macro-orchidism):** This is the hallmark clinical feature of Fragile X, usually becoming most apparent post-puberty. It is caused by an accumulation of interstitial fluid and connective tissue changes. * **Large ears and Long face:** These are classic craniofacial dysmorphic features. Patients typically exhibit a prominent forehead, a long, narrow face, and large, protruding ears due to underlying connective tissue weakness. **High-Yield Clinical Pearls for NEET-PG:** * **Genetics:** X-linked dominant inheritance with variable expressivity; involves **"Anticipation"** (symptoms become more severe in successive generations). * **Trinucleotide Repeat:** CGG (Mnemonic: **C**GG = **C**hin, **G**iant **G**onads). * **Behavioral Profile:** ADHD, hand-flapping, poor eye contact, and social anxiety. * **Other Physical Signs:** High arched palate, mitral valve prolapse (MVP), and joint hypermobility. * **Diagnosis:** Molecular analysis (PCR or Southern Blot) is the gold standard; cytogenetic testing (showing the "fragile" site) is now largely historical.

Q: Which of the following is a preventable cause of mental retardation?

Cretinism. **Explanation:** **Cretinism (Congenital Hypothyroidism)** is the correct answer because it is the **most common preventable cause of intellectual disability (mental retardation) worldwide.** The underlying medical concept is that thyroid hormones are critical for fetal and neonatal brain development, specifically for neuronal migration, myelination, and synaptogenesis. If diagnosed early through **newborn screening** and treated promptly with Levothyroxine (ideally within the first 2 weeks of life), the neurodevelopmental damage can be entirely prevented, allowing the child to achieve a normal IQ. **Analysis of Incorrect Options:** * **Down Syndrome (Option A):** This is a chromosomal anomaly (Trisomy 21). While it can be screened for prenatally, it is a genetic condition that cannot be "prevented" or reversed once conception has occurred. * **Phenylketonuria (Option B):** While the intellectual disability associated with PKU can be *managed* or mitigated through a strict low-phenylalanine diet, it is an inherited metabolic disorder. Cretinism is considered more "preventable" in a public health context, especially in cases caused by maternal iodine deficiency. * **Cerebral Palsy (Option C):** This is a non-progressive motor impairment syndrome caused by an insult to the developing brain (e.g., birth asphyxia). While some causes are avoidable, CP itself is a clinical description of permanent brain damage rather than a specific preventable metabolic or endocrine condition. **Clinical Pearls for NEET-PG:** * **Most common cause of Cretinism:** Thyroid dysgenesis (Ectopy is the most common specific type). * **Early signs:** Prolonged physiological jaundice, large posterior fontanelle, hoarse cry, and umbilical hernia. * **Iodine Deficiency:** The most common cause of preventable mental retardation in specific endemic geographical belts.

Q: An 8-year-old child presents with enuresis (bedwetting). The parents mention the child had a fall from bed once, but has no other significant medical history. There are no signs of urinary tract infection or neurological deficits. What is the best next step in management?

Behavioral modification. ***Behavioral modification*** - **Behavioral modification** is the established first-line management approach for **monosymptomatic nocturnal enuresis (MNE)** in children aged 5 years and older, particularly when underlying organic causes are ruled out. - This includes techniques like **bedwetting alarms** (most effective long-term treatment), motivational therapy, and restricting evening fluid intake. *Start desmopressin therapy* - **Desmopressin (DDAVP)** is the most common pharmacological agent for MNE, used for severe symptoms or situational control (e.g., sleepovers). - However, desmopressin is typically initiated *after* an adequate trial (3-6 months) of **behavioral therapies** has failed, making it a second-line, not first-line, option. *Order renal ultrasound and voiding cystourethrogram* - Imaging studies are **not routinely indicated** in uncomplicated primary MNE without red flags. - These investigations are reserved for cases with **secondary enuresis**, daytime symptoms, recurrent UTIs, abnormal physical findings, or suspected anatomical abnormalities. - The current presentation has no concerning features warranting immediate imaging. *Prescribe oxybutynin* - Oxybutynin is an anticholinergic agent used primarily when enuresis is due to **reduced functional bladder capacity** or **daytime wetting** associated with urgency. - It is typically a **second-line agent** or used only when a full workup identifies specific bladder dynamics issues, following the failure of behavioral therapy.

Q: A young boy is brought to the clinic for developmental assessment. On examination, he has a prominent epicanthal fold, a single transverse palmar crease, hypotonia, and intellectual disability. Facial features appear flat with upslanting palpebral fissures. What is the most likely diagnosis?

Down syndrome. ***Down syndrome*** (Trisomy 21) is the most likely diagnosis, as the combination of **hypotonia**, **intellectual disability**, **flat facial features**, **upslanting palpebral fissures**, and a **single transverse palmar crease** (Simian crease) are classic findings. The presence of these multiple congenital anomalies suggests a chromosomal abnormality, with Trisomy 21 being the most common cause of intellectual disability associated with these findings. *Patau syndrome* (Trisomy 13) is characterized by severe midline defects such as **cleft lip and palate**, **microphthalmia**, and **polydactyly**, features not mentioned in this presentation. *Edward syndrome* (Trisomy 18) is typically associated with **rocker-bottom feet**, **micrognathia**, and characteristic **clenched hands** with overlapping fingers, making this option less likely. Finally, *Fragile X syndrome* is an X-linked disorder presenting with large ears, a long face, and **macroorchidism** (in post-pubertal males), but lacks the specific facial and palmar crease findings described here.

Q: Comment on the diagnosis of this child with hypoactive deep tendon reflexes and reduced range of movement at all joints:

Arthrogryposis multiplex congenital. ***Arthrogryposis multiplex congenita*** - This condition is characterized by **multiple congenital joint contractures** at birth, which directly explains the reduced range of movement at all joints. - The hypoactive deep tendon reflexes can be associated with underlying neuromuscular involvement that contributes to the joint contractures. *Down's syndrome* - Children with Down's syndrome typically present with **generalized hypotonia** (low muscle tone) and often have **hypermobility** of joints, rather than reduced range of motion and contractures. - While they can have developmental delays, the specific combination of stiff joints and hypoactive reflexes does not align with the typical presentation of Down's syndrome. *Achondroplasia* - Achondroplasia is a form of **short-limbed dwarfism** characterized by disproportionately short limbs and a normal-sized trunk, primarily affecting bone growth. - It does not typically cause generalized joint contractures or hypoactive deep tendon reflexes. *Turner syndrome* - Turner syndrome (XO) affects females and is characterized by **short stature, webbed neck, and heart defects**, among other features. - It generally does not present with generalized joint contractures or hypoactive deep tendon reflexes as primary musculoskeletal findings.

Question 1

A 3-year-old child presents with diurnal enuresis and soiling of clothes. What is the required treatment?

Accepted Answer

Behavior modification

Answer

Urethroplasty

Answer

Catheterization for 7 days

Answer

Circumcision at 10 years

Question 2

A 5-year-old girl is referred for evaluation of bed-wetting. The mother states that her daughter has never fully gained control of her bladder. It took her an extended period of time to grow out of diapers, and the girl has finally stopped having "accidents" during the day. However, she continues to wet her bed at night. The patient has developed normally in all other aspects and will be starting kindergarten in three months. Both her mother and father are extremely frustrated and have been losing sleep, as the girl wakes up at night 4 to 5 times per week. Physical examination is unremarkable. Which of the following will most likely be the result of further investigation?

Accepted Answer

Normal

Answer

Large capacity bladder

Answer

Learning disability

Answer

Urinary tract infection

Question 3

What is the most common age group affected by infantile colic?

Accepted Answer

0-3 months

Answer

4-6 months

Answer

7-9 months

Answer

10-12 months

Question 4

A 3-year-old girl with normal developmental milestones, except for delayed speech onset at four years old, shows a lack of peer interaction and a preference for routine in eating, playing, and sleeping. She experiences temper tantrums when faced with changes. What is the likely diagnosis?

Accepted Answer

Autism Spectrum Disorder

Answer

Attention Deficit Hyperactivity Disorder (ADHD)

Answer

Specific Learning Disorder

Answer

Intellectual Disability

Question 5

Which of the following findings is NOT true about Fragile X syndrome?

Accepted Answer

Pigmented nevi

Answer

Large testis

Answer

Large ear

Answer

Long face

Question 6

Which of the following is a preventable cause of mental retardation?

Accepted Answer

Cretinism

Answer

Down syndrome

Answer

Phenylketonuria

Answer

Cerebral palsy

Question 7

An 8-year-old child presents with enuresis (bedwetting). The parents mention the child had a fall from bed once, but has no other significant medical history. There are no signs of urinary tract infection or neurological deficits. What is the best next step in management?

Accepted Answer

Behavioral modification

Answer

Start desmopressin therapy

Answer

Order renal ultrasound and voiding cystourethrogram

Answer

Prescribe oxybutynin

Question 8

A young boy is brought to the clinic for developmental assessment. On examination, he has a prominent epicanthal fold, a single transverse palmar crease, hypotonia, and intellectual disability. Facial features appear flat with upslanting palpebral fissures. What is the most likely diagnosis?

Accepted Answer

Down syndrome

Answer

Patau syndrome

Answer

Edward syndrome

Answer

Fragile X syndrome

Question 9

A 9-month-old child is brought to OPD with developmental concerns. The child cannot sit without support, says "dada" and "mama", and has stranger anxiety. What is the appropriate management?

Accepted Answer

Refer to neurologist for developmental assessment

Answer

Reassure the parents that it's normal development

Answer

Order an immediate MRI

Answer

Advise parents to start exercises

Question 10

Comment on the diagnosis of this child with hypoactive deep tendon reflexes and reduced range of movement at all joints:

Accepted Answer

Arthrogryposis multiplex congenital

Answer

Down's syndrome

Answer

Achondroplasia

Answer

Turner syndrome

Developmental and Behavioral Pediatrics — MCQs

Developmental and Behavioral Pediatrics — MCQs

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