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Development

In the following diseases normal mental development may depend on treatment in early infancy A tuberose sclerosis B haemolytic disease of the newborn C Tay-Sachs' disease D phenylketonuria E galactosaemia (False) (True) (False) (True) (True)

Comments: Eraly treatment of disorders like congenital hypothyroidism, phenylketonuria, galactosaemia and HDN help to prevent the mental retardation associated wit these disorders. This is why many of these conditions are screened for at birth. Nothing can be done to prevent problems with Tay-Sachs or TS.

A normal term baby on the 2nd day of postnatal life: A Needs an environmental temperature of 32C to maintain normal body temperature. B If jaundiced requires a fluid intake of 200ml/kg body weight/day. C If bottle fed should be given a milk formula containing 67 Kcal/100ml. D Might have a spleen tip palpable. E Has a haemoglobin of 10gm/100ml.

(False) (False) (True) (True) (False)

Comments: An environmental temperature of this level may produce hyperthermia. 2-3 ml/kg per hour is normal requirement and physiological jaundice does not result in significant increases from this level. The Hb level should be 12-16g/dl in a female and 14-18g/dl in a male. A 16 month old boy is brought to clinic by his mother who is concerned regrading his development. Which of the following tasks should he be able to perform by this age? A Scribble spontaneously with pencil on paper. B Walk alone. C Says no and shakes head D He is unable to build a tower of 4 cubes. E Able to throw an object (False) (False) (True) (False) (False)

Comments: Scribbling occurs usually by the age of 2 and he should be able to build a tower of 5 blocks at that stage. Throwing an object usually should be completed by 15-18 months. He should be able to say no and shake his head plus sing by this satge. For more on developmental milestones.

Development

During puberty in girls: A Breast enlargement occurs before axillary hair growth B Menarche coincides with peak growth velocity C Maximal growth velocity occurs on average two years earlier than in boys D Early breast enlargement is often asymmetrical E Menarche frequently occurs before the appearance of pubic hair (True) (False) (True) (True) (False)

Comments: Female pubertal development is mediated partly by ovarian oestrogen and partly by adrenal androgens. Oestrogen promotes thelarche, linear growth, vaginal development and altered body shape. Adrenarche results in the development of pubic and axillary hair and acne. In 85% of girls the initial pubertal event is the appearance of breast buds, axillary and pubic hair occur subsequently. Breast enlargement may be asymmetrical. The growth spurt begins with the onset of breast budding and occurs early in females in contrast to males, in whom it occurs at the latter stages of puberty. Menarche takes place after the onset of Adrenarche and 18-24 months after thelarche.

A young girl is brought to clinic regarding her pubertal development. Which of the following statements is/are true regarding female pubertal development? A It is within the normal range for breast development to start as early as 9 years B The growth spurt tends to occur towards the end of puberty C Menarche usually follows breast and pubic hair development D The first few menstrual cycles are usually non ovulatory E Delay in puberty is a well recognised feature of anorexia nervosa (True) (False) (True) (True) (True)

Comments: The average age for breast development is 10.8y, but it may occur in normal females as early as 9 yrs and in some cases even earlier. The growth spurt in females occurs midway in puberty in females, approximately 1 year prior to menstruation and 1 year after thelarche. Menarche occurs at an average age of 12.9years , 2 years after thelarche and pubic hair development. Menstrual cycles in the first 2 years are mostly non ovulatory. Delay in puberty secondary to hypothalamic supression is common in this condition.

In the course of a routine examination on the 2nd day in a baby born at term on the lying-in ward: A An umbilical hernia is definitive evidence of congenital hypothyroidism. B A capillary haemangioma (stork mark) at the back of the neck should be treated with Calamine Lotion. C A sacral dimple in most instances suggests a fistula communicating with the subarachnoid space. D In boys bilateral undescended testes should be treated with a weeks course of testosterone. E A lump in the inguinal region in a girl justifies chromosome analysis. (False) (False) (False) (False) (True)

Development

Comments: Congenital hypothyroidism is associated with umbilical hernia but not definitive evidence. A capillary haemangioma is benign and self limiting. A sacral dimple occurs in 2% of babies and is most commonly not associated with neural tube defects. Undescended testes requires physical examination for retractile testes and eventual surgery if non retractile, testosterone therapy is unhelpful. The lump in the inguinal region could be of testicular origin and indicate an androgen insensitivity syndrome.

A 2 month old baby boy weighs 3.6kg. His birth weight was 3.1kg. When he presents to OPD is he taking 2oz of full strength milk five times a day? A He is taking an adequate amount of food for normal growth. B He may have congenital heart disease. C Measurement of length and head circumference is a useful procedure to facilitate diagnosis. D Congenital hypothyroidism should be considered. E The milk should be changed to another formula. (False) (True) (True) (True) (False)

Comments: 18-40oz is the recommended intake in this age group. Associated medical disorders such as congenital heart disease and congenital hypothyroidism may be manifested by feeding difficulties. Nutritional deficits affect weight, head circumference and length.

In a normal term baby at birth: A Occipito-frontal head circumference is greater than maximum chest circumference. B The prepuce (in boys) is usually not retractile. C Stepping reflex is present. D A palpable spleen tip is always pathological. E The epiphysis of the femoral head is usually present.

(False) (True) (True) (False) (False)

Comments: Occipital-frontal head circumference should be smaller than chest circumference. In a normal term baby at birth the prepuce is not retractile, but 50% of boys have a retractile prepuce by the age of ten and over 90% following puberty. The stepping reflex and other types of reflexes, , including the moro or startle reflex, walking or stepping, tonic neck reflex and the palmar and plantar grasp are present and most of these from birth. Spleen tips may be identified in normal newborns. The femoral epiphysis may develop and ossify later.

Features compatible with Rickets, secondary to dietary inadequacy include: A Bow legs B Low alkaline phosphatase C Low serum phosphate level (True) (False) (True)

Development

D Normal serum calcium E Advanced bone age

(True) (False)

Comments: Clinical features include: bowing of tibia and fibula, craniotabes (soft skull), thickening of forearm at the wrist, and of the costo chondral junction (rachitic rosary). Dietary Vitamin D deficiency stimulates secondary hyperparathyroidism, which causes increased renal excretion of phosphate, low serum phosphate, and reduced urinary calcium excretion. Calcium concentrations may be low or low normal. Raised alkaline phosphatase results from osteoblasts forming unmineralised matrix. Short stature and delayed bone age are associated.

Regarding language impairment: A Is 4 times more common in girls. B Is commoner in families with experienced mothers. C Is commonly associated with middle ear disease. D May be associated with motor impairment. E Is highly associated with socio-economic deprivation. (False) (True) (False) (True) (True)

Comments: The following are associated with language impairment: - Sex: 4 times commoner in males. - Family history. - Motor/developmental problems. - Social: large family size, and socio-economic deprivation. There is seldom any abnormality in perinatal history, and though middle ear disease may be important for individual children, it is not responsible for the majority of cases of language impairment.

Development

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