Developmental and Behavioral Pediatrics Practice Questions

Q: All of the following statements are true about Rett's syndrome except:

Is more common in males. **Explanation:** Rett Syndrome is a unique neurodevelopmental disorder that primarily affects **females**. The correct answer is **D** because the condition is almost exclusively seen in girls; in males, the mutation is typically lethal in utero, leading to miscarriage or neonatal death. **Why Option D is the Correct (False) Statement:** Rett Syndrome is caused by a mutation in the **MECP2 gene** located on the **X chromosome**. Since females have two X chromosomes, they can survive with one mutated copy (due to X-inactivation), whereas hemizygous males (XY) lack a functional copy, resulting in severe encephalopathy or prenatal lethality. **Analysis of Other Options:** * **Option A:** A hallmark of Rett Syndrome is a period of normal development followed by **regression**. Loss of acquired purposeful hand skills and motor milestones typically occurs between **5 to 48 months** of age. * **Option B:** Significant **language impairment** and loss of social engagement (often mimicking autism in the early stages) are core clinical features. * **Option C:** As the disease progresses, neurological stability declines, leading to **ataxia** and a **poorly coordinated gait** or trunk movements. **High-Yield Clinical Pearls for NEET-PG:** * **Hand Stereotypies:** The most characteristic sign is repetitive, "hand-washing" or "hand-wringing" movements. * **Head Growth:** Deceleration of head growth (acquired microcephaly) is a key diagnostic criterion. * **Stages:** It progresses through four stages: Early onset, Rapid destruction, Plateau, and Late motor deterioration. * **Mnemonic:** Think of **"Rett = Regression + wRinging hands + girls."**

Q: All of the following are preschool age problems EXCEPT:

Temper tantrum. **Explanation:** The **preschool age** typically refers to children aged **3 to 6 years**. To answer this question, one must distinguish between behaviors normal for toddlers (1–3 years) and those characteristic of the preschool period. **Why "Temper Tantrum" is the correct answer:** Temper tantrums are considered a hallmark of the **toddler age group (1–3 years)**, peaking around 18–24 months. They occur because toddlers have limited verbal skills to express frustration and are transitioning toward autonomy. By the preschool age (3–6 years), children have developed better language skills and emotional regulation; therefore, persistent temper tantrums at this stage are often considered a behavioral concern rather than a normal developmental phase. **Analysis of Incorrect Options:** * **Sleeping Disorders:** These are very common in preschoolers (3–6 years), specifically **night terrors** and **nightmares**. This is the age when a child’s imagination develops, leading to fears of the dark or monsters. * **Pica:** While it can start earlier, pica (eating non-nutritive substances) is frequently diagnosed or persists into the preschool years. It is often associated with iron or zinc deficiency or emotional deprivation. * **Stuttering (Normal Disfluency):** Between ages 3 and 4, many children experience "developmental stuttering" as their thought processes outpace their motor speech abilities. It is a classic preschool-age concern. **NEET-PG High-Yield Pearls:** * **Breath-holding spells:** Most common between 6 months and 2 years (Toddler). * **Thumb sucking:** Considered normal until age 4; if it persists beyond age 5, it may cause dental malocclusion. * **Enuresis:** Diagnosis is only made after age 5 (Preschool/School age). * **Night Terrors:** Occur during NREM sleep (Stage 4); the child has no memory of the event.

Q: Early strict toilet training can result in which of the following?

Encopresis. **Explanation:** **Why Encopresis is the Correct Answer:** Toilet training is a significant developmental milestone usually initiated between 18–24 months when the child achieves physiological readiness (sphincter control). **Early or overly strict toilet training** often leads to a "battle of wills" between the parent and child. This psychological stress causes the child to intentionally withhold stool to exert control or avoid punishment. Chronic withholding leads to fecal impaction, loss of rectal sensation, and eventually **overflow incontinence**, known as **Encopresis**. In this context, it is considered a functional constipation-related disorder triggered by coercive behavioral interventions. **Analysis of Incorrect Options:** * **A. Nocturnal Enuresis:** This is involuntary voiding of urine during sleep in children >5 years. While it can have psychological components, it is more commonly linked to genetics, ADH secretion patterns, or small bladder capacity rather than strict toilet training. * **C. Night Terrors:** These are parasomnias occurring during NREM sleep (Stage 3/4). They are related to CNS immaturity and are not directly caused by toilet training methods. * **D. Temper Tantrums:** While strict training might trigger a tantrum in the moment, tantrums are a normal part of the "Toddler" phase (1–3 years) as children struggle with autonomy. Encopresis is the specific clinical sequela of toilet training conflict. **Clinical Pearls for NEET-PG:** * **Readiness Signs:** The child should be able to walk to the potty, stay dry for 2 hours, and follow simple commands before training begins. * **Encopresis Definition:** Repeated passage of feces into inappropriate places (involuntary or intentional) in a child at least **4 years** of age. * **Primary vs. Secondary:** Primary encopresis means the child never achieved fecal continence; Secondary means it developed after a period of continence.

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

Hypothyroidism. **Explanation:** **1. Why Hypothyroidism is the Correct Answer:** Congenital Hypothyroidism is the **most common preventable cause** of intellectual disability (mental retardation) worldwide. 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 with Levothyroxine within the first 2–4 weeks of life, the neurodevelopmental damage can be entirely prevented, allowing the child to achieve a normal IQ. **2. Why Other Options are Incorrect:** * **Down Syndrome (Trisomy 21):** This is a chromosomal anomaly. While it is the most common genetic cause of intellectual disability, it is **not preventable** once conception has occurred, nor is the cognitive impairment reversible. * **Cerebral Palsy (CP):** CP is a permanent, non-progressive motor impairment caused by an insult to the developing brain (e.g., birth asphyxia). While some causes of CP can be *avoided* through better obstetric care, the condition itself is a permanent structural brain injury that cannot be "cured" or reversed to prevent the associated developmental delays. **3. High-Yield Clinical Pearls for NEET-PG:** * **Most common cause of preventable mental retardation:** Iodine deficiency (globally/nutritional) or Congenital Hypothyroidism (clinical). * **Most common inherited cause of mental retardation:** Fragile X Syndrome. * **Most common genetic/chromosomal cause of mental retardation:** Down Syndrome. * **Screening:** The best time to screen for Congenital Hypothyroidism is **after 48–72 hours of birth** to avoid the physiological TSH surge. * **Clinical Sign:** An umbilical hernia, large posterior fontanelle, and prolonged neonatal jaundice are early clues to hypothyroidism.

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: A child presents with features of short stature, muscle weakness, and learning disability. Chromosome analysis reveals a deletion on the long arm of chromosome 15q on the paternal side. What is the most likely diagnosis?

Prader-Willi syndrome. ***Correct: Prader-Willi syndrome*** - Caused by deletion or loss of function of **paternally inherited genes on chromosome 15q11-q13** - Classic features include **hypotonia, hyperphagia leading to obesity, short stature, hypogonadism, and learning disabilities** - The paternal origin of the deletion is key to diagnosis (genomic imprinting disorder) - Diagnostic criteria: characteristic facial features (almond-shaped eyes, narrow forehead), small hands and feet *Incorrect: Angelman syndrome* - Also involves chromosome 15q11-q13 but from **maternal deletion** (not paternal) - Features: severe intellectual disability, ataxia, happy demeanor with inappropriate laughter, seizures - Different clinical presentation despite same chromosomal region (imprinting disorder) *Incorrect: Rett syndrome* - X-linked dominant disorder caused by **MECP2 gene mutation** on chromosome X (not 15) - Primarily affects females with normal early development followed by regression - Characteristic hand-wringing movements and loss of purposeful hand skills *Incorrect: Cri du chat syndrome* - Caused by deletion on the **short arm of chromosome 5p** (not 15) - Named for characteristic cat-like cry in infancy - Features: microcephaly, wide-set eyes, low-set ears, severe intellectual disability

Question 1

All of the following statements are true about Rett's syndrome except:

Accepted Answer

Is more common in males

Answer

Loss of acquired motor skills between 5 to 48 months

Answer

Language impairment is a symptom

Answer

Poorly coordinated gait is commonly seen

Question 2

Which among the following is the most common cause of temper tantrum?

Accepted Answer

Bad parenting

Answer

Autism

Answer

ADHD

Answer

Behavioral problems

Question 3

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 4

All of the following are preschool age problems EXCEPT:

Accepted Answer

Temper tantrum

Answer

Sleeping disorder

Answer

Pica

Answer

Stuttering

Question 5

Early strict toilet training can result in which of the following?

Accepted Answer

Encopresis

Answer

Nocturnal enuresis

Answer

Night terror

Answer

Temper tantrums

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

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

Accepted Answer

Hypothyroidism

Answer

Down syndrome

Answer

Cerebral palsy

Answer

All of the above

Question 8

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 9

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 10

A child presents with features of short stature, muscle weakness, and learning disability. Chromosome analysis reveals a deletion on the long arm of chromosome 15q on the paternal side. What is the most likely diagnosis?

Accepted Answer

Prader-Willi syndrome

Answer

Rett syndrome

Answer

Angelman syndrome

Answer

Cri du chat syndrome

Developmental and Behavioral Pediatrics — MCQs

Developmental and Behavioral Pediatrics — MCQs

On this page

Practice by Chapter

Want unlimited practice?