Growth and Development Practice Questions

Q: The chromosomal karyotype in Patau syndrome is?

47XX,+13. **Explanation:** **Patau Syndrome** is a severe genetic disorder caused by **Trisomy 13**. The correct karyotype is **47,XX,+13** (or 47,XY,+13), indicating an extra copy of chromosome 13. This occurs most commonly due to meiotic non-disjunction during gametogenesis. **Analysis of Options:** * **Option D (Correct):** 47,XX,+13 represents Trisomy 13. It is characterized by the "classic triad" of **Microphthalmia, Cleft lip/palate, and Polydactyly**. * **Option A:** 47,+21 is the karyotype for **Down Syndrome** (Trisomy 21), the most common autosomal trisomy. * **Option B:** 46XX/47,+18 represents **Mosaic Edwards Syndrome**. While +18 is Edwards syndrome, mosaicism occurs when only a percentage of cells carry the extra chromosome. * **Option C:** 45XX,der(14;21) represents a **Robertsonian Translocation**, a common cause of familial Down Syndrome, where the total chromosome count is 45 but genetic material is rearranged. **High-Yield Clinical Pearls for NEET-PG:** * **Patau Syndrome (Trisomy 13):** Look for midline defects (Holoprosencephaly), Scalp defects (Aplasia cutis congenita), and Rocker-bottom feet. * **Edwards Syndrome (Trisomy 18):** Look for Clenched fists (overlapping fingers), Micrognathia, and prominent occiput. * **Mnemonic for Trisomies:** * **P**atau: **P**uberty (Age 13) * **E**dwards: **E**lection (Age 18) * **D**own: **D**rinking (Age 21) * **Prognosis:** Both Trisomy 13 and 18 have a very poor prognosis, with most infants not surviving beyond the first year of life.

Q: An 8-week-old infant can do all of the following except?

Maintain head control. **Explanation:** The correct answer is **A (Maintain head control)**. In pediatric development, milestones follow a predictable cephalocaudal (head-to-toe) progression. Complete head control is typically achieved by **4 months** of age. At 8 weeks (2 months), an infant still exhibits significant head lag when pulled to sit, although they may attempt to lift the head momentarily. **Analysis of Options:** * **A. Maintain head control:** This is the "Except" because it is a 4-month milestone. At 2 months, the neck muscles are not yet strong enough to support the head steadily without assistance. * **B. Lift head to the horizontal line in ventral suspension:** This is a classic 2-month gross motor milestone. When held prone (ventral suspension), the infant can lift their head to the level of the trunk. By 3 months, they can lift the head *above* the horizontal line. * **C. Follow a red object up to 180 degrees:** This is a 2-month visual milestone. While a 1-month-old follows objects to the midline (90°), a 2-month-old tracks objects from one side to the other (180°). * **D. Display a social smile:** This is one of the most high-yield 2-month social milestones. It signifies the beginning of interpersonal interaction, distinguishing it from the reflexive "spontaneous" smiles seen in newborns. **High-Yield Clinical Pearls for NEET-PG:** * **Social Smile:** 2 months (Earliest sign of social development). * **Head Control:** 4 months (No head lag when pulled to sit). * **Ventral Suspension:** Head at the level of the trunk at 2 months; head above the trunk at 3 months. * **Red Ball Tracking:** 1 month (90°), 2 months (180°). * **Coos:** 2 months (Vowel sounds).

Q: Persistence of this milestone beyond what age is considered abnormal?

5 months. ***5 months*** - The **palmar grasp reflex** normally disappears by **3-4 months** of age as voluntary motor control develops. - Persistence beyond **5 months** indicates abnormal neurological development and potential **cerebral palsy** or other motor disorders. *3 months* - At 3 months, the **palmar grasp reflex** is still considered **normal** and expected to be present. - Most primitive reflexes, including palmar grasp, begin to fade around this age but complete disappearance occurs later. *7 months* - By 7 months, persistence would be **significantly abnormal** and far beyond the normal timeframe. - This would indicate **severe developmental delay** or **neurological pathology** requiring immediate evaluation. *9 months* - Persistence at 9 months represents **profound developmental abnormality** well beyond normal limits. - At this age, infants should demonstrate **voluntary grasping** and **pincer grip** rather than primitive reflexes.

Q: At what age can a child identify their age, gender, and name, draw a circle, and build a tower of nine cubes?

3 years. ### Explanation The correct answer is **3 years**. This question tests the integration of milestones across multiple domains: gross motor, fine motor, language, and personal-social development. **1. Why 3 years is correct:** At 3 years, a child reaches several high-yield developmental milestones: * **Fine Motor:** They can build a **tower of 9–10 cubes** (Age in years × 3 is a common rule of thumb for cube towers up to age 3). They can also **copy a circle**. * **Language/Cognitive:** The child can state their **full name, age, and gender**. Their vocabulary has expanded to about 900 words, and they speak in 3–4 word sentences. * **Gross Motor:** They can ride a tricycle and go upstairs using alternating feet. **2. Why other options are incorrect:** * **2 years:** A 2-year-old can build a tower of only 6 cubes, draw a vertical line (not a circle), and use 2-word phrases. They generally cannot identify their gender or age reliably. * **4 years:** By this age, fine motor skills have progressed to copying a **square** and a cross. They can build a tower of 10+ cubes and tell stories. * **5 years:** A 5-year-old can copy a **triangle**, tie shoelaces, and speak fluently. **3. NEET-PG High-Yield Clinical Pearls:** * **Cube Towers:** 15 months (2 cubes), 18 months (3 cubes), 2 years (6 cubes), 3 years (9 cubes). * **Figure Drawing (Sequential):** Circle (3y) → Cross (3.5y) → Square (4y) → Triangle (5y) → Diamond (6y). * **Tricycle:** Riding a tricycle is a classic "3-year-old" milestone often tested alongside the "circle" and "9-cube tower."

Q: Which of the following developmental milestones is typically NOT achieved by a 15-month-old child?

Speaks three-word sentences. **Explanation:** The development of a child follows a predictable sequence across four domains: gross motor, fine motor, language, and social. To answer this question, one must distinguish between milestones achieved by **15 months** versus those expected at **3 years (36 months)**. **Why Option D is correct:** **Speaks three-word sentences** is a milestone typically achieved at **3 years (36 months)**. At 15 months, a child is expected to speak only 1–2 words with meaning (jargon speech). By 18 months, they have a vocabulary of about 10 words, and by 2 years (24 months), they begin using simple two-word phrases (e.g., "want milk"). **Analysis of Incorrect Options:** * **A. Walking with support:** This is a **9–10 month** milestone. By 15 months, most children can walk independently (usually achieved by 12–13 months) and may even crawl upstairs. * **B. Transfers objects from one hand to another:** This is a fine motor milestone achieved at **6 months**. By 15 months, fine motor skills have progressed to a mature pincer grasp and the ability to use a spoon. * **C. Builds a tower of two cubes:** This is a classic **15-month** milestone. The "Tower of Cubes" progression is a high-yield NEET-PG topic: 2 cubes at 15m, 3 cubes at 18m, 6 cubes at 24m, and 9 cubes at 36m. **High-Yield Clinical Pearls for NEET-PG:** * **Rule of Three (Language):** At 3 years, a child speaks in 3-word sentences and can give their name, age, and gender. * **Handedness:** Preference for one hand before **18 months** is abnormal and may suggest early focal neurological deficit (e.g., hemiplegic cerebral palsy). * **Social Milestone:** At 15 months, the child demonstrates "intense curiosity" and "feeds self with a cup."

Q: What is the percentage chance of having an unaffected baby when both parents have achondroplasia?

25%. ### Explanation **1. Understanding the Correct Answer (B: 25%)** Achondroplasia is the most common cause of short-limb dwarfism and follows an **Autosomal Dominant (AD)** inheritance pattern. It is caused by a gain-of-function mutation in the **FGFR3 gene**. When both parents have achondroplasia, they are both heterozygous (**Aa**) for the trait. (Note: Homozygous individuals, **AA**, do not survive). According to the Mendelian Punnett square for a cross between two heterozygotes (Aa x Aa): * **25% AA:** Homozygous dominant (Lethal) * **50% Aa:** Heterozygous (Affected with achondroplasia) * **25% aa:** Homozygous recessive (**Unaffected/Normal stature**) Therefore, there is a **25% chance** of having a child with normal height. **2. Why Other Options are Incorrect** * **A (0%):** Incorrect because the parents are heterozygous; they both carry the recessive "normal" allele (**a**) which can combine to produce an unaffected child. * **C (50%):** This is the probability of having a child with achondroplasia who survives (heterozygous). * **D (100%):** This would only occur if both parents were homozygous recessive (aa), which contradicts the premise that they have achondroplasia. **3. NEET-PG Clinical Pearls & High-Yield Facts** * **Lethality:** The homozygous state (**AA**) is **lethal in utero** or in the early neonatal period due to severe respiratory insufficiency from a constricted thoracic cage. * **Advanced Paternal Age:** Over 80% of cases are due to *de novo* mutations, which are strongly associated with increased paternal age (>40 years). * **Radiological Signs:** Look for "trident hand," "bullet-shaped vertebrae," and narrowing of the interpedicular distance in the lumbar spine. * **Intelligence:** Children with achondroplasia typically have **normal intelligence** and a normal lifespan.

Q: Significant variations in the attainment of milestones across different developmental domains is called:

Dissociation. ### Explanation **Correct Answer: B. Dissociation** **Understanding the Concept:** In developmental pediatrics, **Dissociation** refers to a significant difference in the rate of development between two or more developmental domains (Gross Motor, Fine Motor, Language, and Social/Adaptive). For example, a child might have normal social and language milestones but show a significant lag in gross motor skills. This is classically seen in conditions like **Cerebral Palsy** (motor delay with normal social skills) or **Early Autism** (language delay with normal motor skills). **Analysis of Incorrect Options:** * **A. Delay:** This refers to a lag in all developmental domains (Global Developmental Delay) or a lag in a specific domain without a significant gap compared to others. It implies the child is following the normal sequence but at a slower pace. * **C. Dency:** This is not a standard medical or developmental term; it is likely a distractor. * **D. Disability:** This is a broad term referring to a functional limitation or impairment (e.g., Intellectual Disability) resulting from a delay or disorder, rather than the pattern of milestone attainment itself. **High-Yield Clinical Pearls for NEET-PG:** * **Global Developmental Delay (GDD):** Defined as a significant delay (2 standard deviations below the mean) in **two or more** developmental domains. * **Developmental Deviancy:** This refers to attaining milestones out of the normal sequence (e.g., a child who crawls before sitting or speaks in sentences before pointing). * **Regression:** The loss of previously acquired milestones; always a "red flag" indicating neurodegenerative disorders (e.g., Rett Syndrome, SSPE). * **Most common cause of Dissociation (Motor < Language):** Cerebral Palsy. * **Most common cause of Dissociation (Language < Motor):** Hearing impairment or Autism Spectrum Disorder.

Q: Which syndrome is characterized by hemihypertrophy, where one half of the body is enlarged?

Beckwith-Wiedemann syndrome. **Explanation:** The correct answer is **Beckwith-Wiedemann Syndrome (BWS)**. BWS is a classic overgrowth disorder caused by epigenetic or genetic alterations on chromosome 11p15. It is clinically characterized by the triad of **Macrosomia** (large birth weight), **Macroglossia** (large tongue), and **Omphalocele** (abdominal wall defects). **Hemihypertrophy** (asymmetric overgrowth of one or more regions of the body) is a hallmark feature and a major clinical criterion for diagnosis. **Analysis of Options:** * **Beckwith-Wiedemann Syndrome (C):** As mentioned, hemihypertrophy is a defining feature. These patients have a significantly increased risk of embryonal tumors, most notably **Wilms tumor** and hepatoblastoma. * **WAGR Syndrome (A):** This is a microdeletion syndrome (11p13) characterized by **W**ilms tumor, **A**niridia, **G**enitourinary anomalies, and **R**etardation (Intellectual disability). It does not typically present with hemihypertrophy. * **Denys-Drash Syndrome (B):** This syndrome consists of a triad of progressive renal disease (diffuse mesangial sclerosis), male pseudohermaphroditism, and Wilms tumor. Hemihypertrophy is not a component of this syndrome. * **Option D:** Incorrect, as only BWS is characterized by hemihypertrophy. **NEET-PG High-Yield Pearls:** 1. **Wilms Tumor Screening:** All children with isolated hemihypertrophy or BWS must undergo abdominal ultrasounds every 3 months until age 7-8 for early detection of Wilms tumor. 2. **Hypoglycemia:** Neonates with BWS often present with severe **hyperinsulinemic hypoglycemia** due to pancreatic islet cell hyperplasia. 3. **Ear Creases:** Look for characteristic linear pits/creases on the earlobes in BWS clinical vignettes.

Q: What is the normal weight of an infant at 1 year of age compared to their birth weight?

Tripled. **Explanation:** The weight of an infant is one of the most sensitive indicators of health and nutritional status. In pediatrics, weight gain follows a predictable pattern during the first few years of life. **Why the correct answer (B) is right:** On average, a healthy term infant doubles their birth weight by **5 months** of age and **triples** it by **1 year (12 months)**. This rapid growth is driven by high metabolic demands and adequate caloric intake during the first year of life. For a standard Indian neonate weighing 3 kg at birth, the expected weight at one year is approximately 9–10 kg. **Why the incorrect options are wrong:** * **A. Doubled:** This occurs earlier, typically between 4 to 5 months of age. * **C. Quadrupled:** This milestone is reached at **2 years** of age. * **D. Variable increase:** While individual growth varies, standardized growth charts (WHO) provide specific milestones used to screen for "Failure to Thrive" or overnutrition. **High-Yield Clinical Pearls for NEET-PG:** * **Weight Milestones:** * 5 months: 2x Birth Weight * 1 year: 3x Birth Weight * 2 years: 4x Birth Weight * 3 years: 5x Birth Weight * 5 years: 6x Birth Weight * 7 years: 7x Birth Weight * 10 years: 10x Birth Weight * **Initial Weight Loss:** It is normal for a neonate to lose **5–10%** of their birth weight in the first week of life (due to excretion of excess extravascular fluid and low intake), which is typically regained by **day 10–14**. * **Daily Gain:** In the first 3 months, an infant gains approximately **25–30 g/day**.

Question 1

A 6-year-old child presents with nocturnal enuresis (bed-wetting at night) but no daytime wetting. Investigations reveal a urine specific gravity of 1.020, with all other tests being normal. What is the most appropriate advice?

Accepted Answer

Referral to a child psychologist

Answer

Reassurance

Answer

Ultrasound abdomen

Answer

CT pelvis

Question 2

The chromosomal karyotype in Patau syndrome is?

Accepted Answer

47XX,+13

Answer

47,+21

Answer

46XX/47,+18

Answer

45XX,der(14;21)

Question 3

An 8-week-old infant can do all of the following except?

Accepted Answer

Maintain head control

Answer

Lift its head up to the horizontal line in ventral suspension

Answer

Follow a red object up to 180 degrees

Answer

Display a social smile

Question 4

Persistence of this milestone beyond what age is considered abnormal?

Accepted Answer

5 months

Answer

3 months

Answer

7 months

Answer

9 months

Question 5

At what age can a child identify their age, gender, and name, draw a circle, and build a tower of nine cubes?

Accepted Answer

3 years

Answer

4 years

Answer

5 years

Answer

2 years

Question 6

Which of the following developmental milestones is typically NOT achieved by a 15-month-old child?

Accepted Answer

Speaks three-word sentences

Answer

Walking with support

Answer

Transfers objects from one hand to another

Answer

Builds a tower of two cubes

Question 7

What is the percentage chance of having an unaffected baby when both parents have achondroplasia?

Accepted Answer

25%

Answer

0%

Answer

50%

Answer

100%

Question 8

Significant variations in the attainment of milestones across different developmental domains is called:

Accepted Answer

Dissociation

Answer

Delay

Answer

Dency

Answer

Disability

Question 9

Which syndrome is characterized by hemihypertrophy, where one half of the body is enlarged?

Accepted Answer

Beckwith-Wiedemann syndrome

Answer

WAGR syndrome

Answer

Denys-Drash syndrome

Answer

All of the above

Question 10

What is the normal weight of an infant at 1 year of age compared to their birth weight?

Accepted Answer

Tripled

Answer

Doubled

Answer

Quadrupled

Answer

Variable increase

Growth and Development — MCQs

Growth and Development — MCQs

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