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MRCPCH GUIDE DEV

A 3-year-old can go upstairs one foot per step and downstairs both feet per step. He can
stand on one foot for a few seconds and ride a tricycle. He can build a tower of nine
cubes, can dress and undress himself, cut with scissors and thread beads. He can copy a
circle, understands big and small, and knows some nursery rhymes. He can give his full
name and sex, attends to toilet himself and eats with a fork and spoon.
A normal three-year-old copies circle with pencil, imitates cross (copies cross at 4, square at
5).

A normal 6-month-old:
Motor in prone lifts head and upper chest on
forearms
sits with support rolls from front to
back and back to front, in prone lifts
head and chest up on hands
Parachute manoeuvre
Vision /
fine
movement
presses palms of hands together squint abnormal
palmar grasp
Hearing/spee
ch
quietens to mum's voice, excited at
sounds he recognises
vocalises tunefully
Social smiles, coos shows enjoyment takes everything to mouth
A normal 6-month-old baby should be able to roll over from front to back, readily follow
objects with their eyes, use a good palmar grasp and transfer objects from hand to hand,
recognise parental voices and babble and laugh. Pincer grip is usually seen from the age of 9
months, the Moro reflex is present from birth and persists until 3-6 months of age. It is
abnormal for the Moro reflex to persist beyond this stage and if it does, cerebral palsy should
be considered. Hand dominance is unlikely before the age of 18 months.


At twelve months a baby recognises and turns to their name
A defensive blink does not form before six weeks of age
A 2-year-old would be able to turn single pages of a book
Object permanence is not a feature at six months and if an object falls from view they will not
attempt to find it.
At 18 months a baby can build a tower of 3 cubes.

A normal 2-year-old would be expected to go upstairs unaided, and come downstairs two feet
per step. They should be able to build a tower of 6 blocks and generally be dry by day. Dryness
by night is more expected of a three-year-old. Recognising colours is more typical of a three-
year-old.
The Moro, Asymmetrical tonic neck and rooting reflexes are present from around 28 weeks of
gestation. It is abnormal for them to persist beyond 6 months of age. The parachute reflex
develops from 6-9 months of age and serves as a protection mechanism as the child begins to
sit and learn to crawl or walk. Upgoing plantars are a normal finding in infants.
The failure of children to say single words at 21 months should raise concern. Children are
usually expected to be dry by day at the age of 2 years and dry by night at the age of 3 years,
however 10% of 5 year olds and 5% of 10 year olds still wet the bed.
Most infants will be vocalising tunefully by age 4 months and using strings of repetitive same-
sound syllables (e.g. 'agagaga', 'dadada') from 7-8 months of age, but there is a range of normal
behaviour and most referral guidelines suggest 10-12 months as an upper limit for babbling.
Monotonous or limited vocalisation after 9-10 months should arouse suspicion of deafness.
Echolalia (repeating phrases others have used) is common at 2 years. The failure of children to
say single words by 18 months should raise concern. A child with a family history of deafness
should be screened during early childhood particularly if the parents have concerns regarding
the childs ability to hear properly.
Drawing a triangle is typical of a 5.5 year old. Being able to give their home address, name four
colours and dress or undress unaided are more typical of a 5-year-old child. A four-year-old
should be able to copy a cross and draw a square by the age of 4.5 years.
A normally developed 1-year-old would be expected to walk with one hand held and use two
words with meaning. A typical 18-month-old would be expected to throw a ball without falling,
feed themselves with a spoon and build a tower of 3-4 bricks.
Children are expected to be dry by day and night by the age of 3 years but dry by day by the
age of 2 years. The Moro reflex and the asymmetrical tonic neck reflex (resulting in increased
extensor tone on the side which the head is turned, and flexor tone on the other) are present
from around 28 weeks of gestation and are deemed abnormal if they persist beyond 6 months
of age. Hand dominance would not be expected to develop until 18 months of age.
Speech delay has many potential causes including Autism, Cerebral palsy, Hearing defects,
Fetal alcohol syndrome, Fragile X syndrome, Downs syndrome, hypothyroidism, congenital
infections and emotional deprivation. It is important to take a family history. Cleft palate is
associated with speech and language delay. This may be a direct effect of dysarthria, because
of the commonly associated hearing problems or because of some global problem that may be
associated with the cleft palate.

Brain stem evoked potentials are useful in babies less than 6 months, particularly those with a
high risk of hearing impairment secondary to kernicterus or prematurity. The oto acoustic test
has 100% sensitivity for sensorineural hearing loss. Distraction testing is used in children up to
1 year of age. Pure tone audiometry is reliably used after the age of 3.5 years as it is at this age
when the child is more able to cooperate with the testing. Play audiometry can be used after 18
months to 2 years of age
A normal 6-week-old child would be expected to smile and show evidence of fixing and
following in the horizontal plane. A 6-month-old can roll from prone to supine. Being able to fix
and follow in the horizontal and vertical planes is seen in a 12-16 week old baby.
A normal 1-year-old child would be able to walk with one hand held, use two words with
meaning and have a well-developed pincer grip. Building a tower of 3 blocks and spontaneously
scribbling with a pencil are more typical of an 18-month-old child.
Don't be confused between 'may' be able to and 'should' be able to. A normal 9-month-old
should be able to demonstrate a pincer grip. A one-year-old would be expected to use two
words with meaning, walk with one hand held, wave bye-bye and start to cruise around the
furniture.
A normal 5-year-old should be able to skip and hop, draw a square, name 4 colours, give their
home address, brush their teeth and dress and undress unaided. Most 5-year-olds will be able
to copy a triangle if this is first demonstrated for them. The median age for drawing a triangle
independently is 5 years old.
A normal three-year-old can ride a tricycle and name 2 colours. Catching a ball, doing up
buttons and giving their age are skills seen in 4-year-olds.

Recognised causes of toe walking include prematurity, unilateral hip dislocation, Duchenne
muscular dystrophy, spastic cerebral palsy and spinal tumours. It is a common normal finding in
children between the ages of 1 and 2 years. Sturge Weber syndrome is not associated with toe
walking.
Waardenburgs syndrome is autosomal dominantly inherited and characterised by a white
forelock, sensorineural hearing loss and heterochromic irises. Toe walking is not a feature.
A 2.5-year-old child should be able to join two or more words in phrases and
ask why and where questions. A 4-year-old child should be able to narrate
stories and have a good grasp of grammar.
Recognised causes of developmental regression beyond the age of 2 years are many and include
sub-acute sclerosing pan encephalitis, other acquired CNS infection including HIV and prion
disease, leukodystrophies, Wilsons disease, other neural storage and mitochondrial disorders.
Developmental regression before the age of 2 years is typically seen in hypothyroidism, HIV
encephalopathy, aminoacidopathies and some of the lysosomal storage disorders including
certain of the mucopolysaccharidoses.
A normal 6-month old baby should be able to roll over from front to back, readily follow objects
with their eyes, use a good palmar grasp and transfer objects from hand to hand, recognise
parental voices and babble and laugh. Moro reflex is present from birth and persists until 3-6
months of age. It is abnormal for the Moro reflex to persist beyond this stage and if it does,
cerebral palsy should be considered.
Waving bye-bye, having a pincer grip and starting to stand with support are more typical of a 9
month old.
A normal 9-month-old should be able to demonstrate a pincer grip, wave bye-bye and start to
cruise around the furniture. They should also be able to differentiate between strangers and
familiar faces, play peek-a-boo and clap their hands. It is normal for mouthing to still occur at
this age. They should be sitting without support at 9 months.
Sitting unsupported is expected by 9 months of age. Smiling at 4-6 weeks is a normal finding.
Children start to walk between the ages of 12-18 months and delay in walking could raise the
question of an underlying problem such as Duchenne muscular dystrophy if the child is a boy.
At the age of one year a child would be expected to say 2 words with meaning. Speech delay
should raise the suspicion of a hearing problem. Building a tower of 3 bricks would be expected
of an 18 month old.
A 6- month-old child may sit unsupported but is unlikely to so for 10 minutes until 9 months.
Children should be referred for a hearing test if there is parental concern regarding the childs
hearing, following bacterial meningitis or if there is a strong family history of deafness. Other
indications for referral include no intelligible speech by 3 years and no single words by the age
of 18 months.
Abnormal development is suggested in a child born at term that has a Moro reflex at 9 months
and is not turning to sound at ten months. The Moro reflex should disappear by the age of 6
months and the ability to turn towards a sound is the basis of the hearing distraction test
performed around that age. A one year old is expected to say 2 words with meaning and
walking typically occurs anywhere from one year to 18 months of age.
An 18-month-old should be able to build a tower of 3 bricks. A 4.5-year-old should be able to
copy a square. A pincer grip should be developed by the age of 9 months. Pulling themselves to
stand and standing whilst holding onto something are features from 9 months to 1 year of age.
Children start to walk between the ages of 12-18 months
It is normal to go up stairs alone, and down holding on, two feet per step at 2 years. Children
can normally name one colour at 3 years, two or three at 4 years and four colours at 5 years. A
2-year-old would be expected to build a tower of six or seven cubes. A 3-year-old copies circle
with pencil, imitates cross (copies cross at 4, square at 5).
Developmentally a normal child copies circle at 3, cross at 4 and square at 5 years.

If a child presents with speech delay, but has normal or near normal receptive language skills,
this can suggest maturation delay, developmental expressive language disorder, dysarthria, or
dyspraxia. The child with both receptive and expressive language delays and normal hearing is
most likely to have mental retardation, mixed receptive and expressive language disorder, or
autism. Psychological and speech evaluations can help differentiate among these possibilities.
The most common causes of speech/language delay, in order of frequency of association, are
mental retardation, hearing impairment, autism, cerebral palsy, craniofacial disorders (such as
cleft palate), genetic disorders, and brain injury.
The plantar and palmar reflexes present from 26 weeks' gestation and persists up to 4 months.
The parachute reflex is the last of the postural reflexes to develop. It usually appears at 8 to 9
months of age. The Moro response is present from 28 weeks of gestation and usually disappears
by 4 months. Persistence beyond 6 months is always abnormal. The neck-righting reflex
appears at 34-37 weeks of gestation and is thereafter present.

Most 12 month-olds will be mobile, by standing holding onto support, lifting one foot and
moving it sideways (cruising around the furniture). They will demonstrate a neat pincer grasp,
picking up a raisin or pellet of paper between the tip of the index finger and the thumb. Words
(or meaningful word-like utterances) are produced, but words are not usually put together
deliberately until the second half of the second year (typically around age 21 months). Building
a tower of three cubes is expected at 18 months.

The following gives a rough estimation of a childs drawing skills from the drawing category
of the Ruth Griffiths mental developmental scales, established from the modified Benet and
Bender Gestalt test. Children are asked to draw independently a straight line, a horizontal
line, a circle, a cross, a square or a man. The ages at which these are copied and notimitated
are established as follows:
Can hold a pencil as if to mark a paper 11 months
Uses pencil on paper a little 13 months
Scribbles 1828 months
Circular scribble in imitation 2.53 years
Perpendicular stroke or line in imitation 2 years
Perpendicular stroke without imitation 3 years
Horizontal line 3 years
Copies a circle or a cross 3 years
Copies a ladder, stage I 4 years
Draws a man, stage I 4 years
Copies a square 5 years
Draws a primitive house with windows, stage I 5 years
Draws a man, stage II 6 years
Triangle 6 years
Three letters 6 years
Writes or prints first name 6 years
Draws a house, stage II 6 years
Draws a slanted rectangle 6 years
Draws a precise ladder, stage II 6 years
Draws a diamond 7 years
Writes figures to 9 correctly 7 years
Writes his or her full name 7 years
Draws a blocked cross and circle/diamond touching 8 years
Writes 10+ letters 8 years
Draws a man, stage II 8 years
Draws a tube 9 years

The assessment of childrens hearing can often be difficult and inconclusive. A significant
family history must be sought and any parental doubt of a childs hearing investigated.
Hearing assessment includes both a parental questionnaire and a clinical assessment. A
hearing deficit is usually suspected if there is an articulation defect at 6.5 months of age.
Hearing Milestones:
Turn to sound: 36 months
Hearing on a horizontal plane: 6 months
Hearing below a horizontal plane: 7 months
Hearing above a horizontal plane: 8 months
Hearing assessment tests vary for different ages of children in order to adapt to their level of
cooperation:
Startle test: Freezes to bell 813 cm away (6 weeks)
Distractiontest: Two assessors (715 months)
Toy test: Kendall and McCormack (2 years)
Pure tone audiometry: Pictures with conditioned responses and a Stycar chart (3
years)
Picture test: Six pictures and twelve pictures (3 years for six pictures, 4 years for
twelve pictures)
Other tests include auditory response cradles, oto-acoustic emissions, brainstem-evoked
auditory responses. A rough age guideline:
06 months: Objective, brainstem-evoked auditory responses, oto-acoustic emission
618 months: Distraction tests
624 months: Visual reinforcement audiometry
1824 months: Cooperation tests, play audiometry
23 years: Sound field conditioning (headphones)
36 years: Pure tone audiometry

Head lag and a tonic neck reflex posture with the head to one side are seen up to 6 weeks of
age for a full-term infant. Crawling is attempted at 78 months of life, and sitting with
support is achieved by 56 months.
Stand on one leg for 35 seconds- attained at 3 years
Ride a tricycle and turn wide corners- attained at 4 years
By 2 years- Run on tiptoe, Pull and push large wheeled toys and squat to play with toys on
the floor, Climb on to the furniture

At 3 months of age, the child reacts to sudden noises, quietens or stills to the mothers or
fathers voice, vocalises in a happy manner when spoken to, cries when uncomfortable or
irritated, and stills to a bell or rattle for 35 seconds.
At 12 months, the child is eagerly attentive to sounds, vocalizes deliberately as a means of
communication, being either friendly or annoyed, shouts for attention, babbles considerably,
understands no and bye bye, and imitates adults engaging in playful sounds.

At 18 months, the following gross motors skills would be expected:
walks with the feet slightly apart
runs carefully with the head held high
pushes and pulls objects around the floor
walks upstairs if the hand is held
kneels on a flat surface without support.
At 2 years, the following would be seen:
squats to play with toys and can rise to the feet without using the hands
climbs on to furniture and can get down again
walks upstairs holding on to a rail or the wall, with two feet on each step
throws a ball overhand forwards without falling over
sits on a small tricycle and propels forwards by pushing with the feet on the floor
At 2.5 years of age, these would be the normal gross milestones to have been achieved:
walks upstairs confidently
runs in straight lines
can jump with two feet together from the lowest step
can stand on tiptoe
should be able to cast a hand-held ball somewhat stiffly at body level.
Pendreds syndrome is the most common form of inherited congenital deafness. It is inherited
in an autosomal recessive fashion and presents with a simple euthyroid goitre and mild
hypothyroidism. The congenital deafness is usually sensorineural in nature. Other genetic
disorders associated with hearing loss include Down syndrome, Velocardiofacial syndrome,
Treacher Collins syndrome, Goldenhaar syndrome, Alport syndrome, CHARGE syndrome
and heterochromia. Waardenburg syndrome is a rare autosomal dominant disorder, the
deafness being associated with pigmentary anomalies including a white forelock,
heterochromia iridis and facial abnormalities.
Acquired causes for hearing loss include chronic suppurative otitis media, commonly known
as glue ear. This is the most common cause of deafness and speech delay in children, causes
including allergy, rhinitis, hay fever, malformation of the eustachian tube and the
accumulation of fluid in the middle ear. Other infective causes include otitis media,
meningitis secondary to a Pneumococcus or Haemophilus influenzae infection and
encephalitis secondary to mumps or Haemophilus influenzae, but not toxoplasmosis, as this
presents with choroidoretinitis.

The primitive reflexes are indicators of functional integrity and maturity. The majority of
reflexes do not persist beyond 6 months of age. There are 13 reflexes of importance,
including:
Moro reflex
startle reflex
rooting reflex
sucking reflex
grasp reflex
voluntary palmar grasp reflex
voluntary reach reflex
stepping reflex
asymmetrical tonic clonic (crossed adductor) reflex
parachute reflex
Babinski plantar reflex
tendon reflex
clonus.
Note that gastrocolic reflux is not a primitive reflex.
Ninety-five per cent of reflexes will have disappeared by the ages shown in the table below.
Age Reflex lost
4 months Palmar, placing, rooting reflexes
6 months Primary parachute, Moro, crossed adductor, tonic clonic reflexes
9 months Plantar reflexes

Development regression
A Hypothyroidism
B Batten disease
C Aminoaciduria disorder
D Human immunodeficiency virus (HIV) encephalopathy
E Peroxisomal disorders
F Lead encephalopathy
G Subacute sclerosing panencephalopathy
H SpielerMayerSchrgen syndrome
I Leighs encephalopathy
J Hydrocephalus secondary to a medulloblastoma
The ten diagnoses are possible causes for a child presenting with developmental regression.
Mitochondrial disorders include Leighs encephalopathy and Batten disease. Batten disease
often presents with myoclonic jerks, dementia and optic atrophy, with lipofuscin found in the
bone marrow cells.
Lysosomal enzyme disorders include mucopolysaccharidoses, sphyngolipidoses (Gauchers
disease) and glycogen protein degradation disorders. These children present with abnormal
facies, with or without hepatosplenomegaly. Other lysosomal enzyme disorders include
mucolipidosis, NiemannPick disease (sphyngomyelin and cholesterol in the tissues, and
foam cells present in bone marrow), and finally metachromic leukodystrophy, which includes
neuropsychoses with associated hyporeflexia and peripheral neuropathy.
Neurocutaneous disorders include neurofibromatosis and tuberous sclerosis. Metabolic
disorders include aminoacidurias, and infective causes such as herpes encephalopathy.
SpielerMayerSchrgen syndrome is associated with decreased visual acuity, seizures,
developmental deterioration, spasticity, dystonia and akinesia.
The above disorders may be a cause of a child presenting with developmental regression at
less than 3 years of age. Children presenting at over 3 years of age may have subacute
sclerosing panencephalopathy secondary to measles, mitochondrial disorders as above, or
genetic disorders of the grey and white matter.
In order to understand speech delay, speech milestones should be understood:
Age Achievement
36 months Tuneful vocalisations
612
months
Babble and repetitive syllables
Mama, dada by 18 months said appropriately, by 1214 months inappropriately
11.5 years Words understood in opposite context with a good understanding of language
1.52.5
years
Jargon and intelligible words. By 2 years, may join two or more words together;
asks why? and where?
2.54 years Rapid speech development. Asks questions and may now direct speech to others
4+ years May narrate stories. Is able to use grammar and sentences by 4.5 years
Causes of speech delay are many. Emotional deprivation is not an emotional disorder. It may
be constitutional and is due to understimulation and neglect. It often occurs in single-child
families or in families with multiple siblings where the youngest child is obviously neglected
or spoken for by the elder siblings. It is not found in twins as they often speak to each other.
Hearing deficit may be a cause of speech delay; causes include secretory otitis media and
deafness. Communication disorders are often associated with speech and language delay; this
may include autistic spectrum disorder, elective mutism and bilingual children. Other
important causes of speech and language delay are listed below.
Syndromes:
Tuberous sclerosis
Down syndrome
Fragile X syndrome
Fetal alcohol syndrome
Neurological conditions:
Cerebral palsy
West syndrome
Duchenne muscular dystrophy
Metabolic disorders:
Phenylketonuria
Hypothyroidism
Infections:
Intrauterine infections (TORCH)
Meningitis
Differential diagnoses that affect but do not delay speech include tonguetie, cleft palate and
malocclusion. Cystinuria does not cause speech delay.

Six-word vocabulary: by 2 years
> 100-word vocabulary: by 3 years
Two- to three-word phrases: by 25 months
Tuneful babbling: by 8 months
Sing nursery rhymes: by 3 years.



















Growth
Hops on one foot, throws ball over arm, goes to toilet alone, draws square from copy. Other
milestones of a 4-year-old include: standing on one foot well, building steps with cubes,
drawing a man with two to four parts, counting to ten, able to undress, sharing toys and
beginning of social interaction. A useful mnemonic for remembering the order of
copying shapes is CCST: Circle (3 years), Cross (3 years), Square (4 years) and
Triangle (5 years)
Rides tricycle, washes hands, knows age and sex, imitates bridge of three cubes. Other
milestones of a 3-year-old include: briefly balancing on one foot, walking on tiptoes,
building tower of nine cubes, copying circle, knows name, speaking three to four word
sentences, helping with dressing, eating with knife and fork. It is easy to remember
some of the three-year-old milestones; such as riding a tricycle and imitating a bridge
with 3 cubes.
Walks up and down stairs one step at a time, jumps with both feet, scribbles spontaneously,
can build tower of more than 4 cubes. Other milestones of a 2-year-old include: running
well, kicking ball, climbing on furniture, building tower of six cubes, copying vertical
line, using plurals, two to three word sentences, feeding with fork and spoon. Children
initially learn to climb stairs one step at a time around 22 years. By around 3 they
can walk upstairs one foot per step, but come down with two. Between 45 they learn to
descend with one foot per step.
Recognised causes of tall stature in childhood include which of the following?
Congenital adrenal hyperplasia
Klinefelters syndrome
Homocystinuria
Obesity

Delayed bone age is a feature in children who present with or who have which of the following?
Hypothyroidism
Coeliac disease
Constitutional delay in growth and development
Bone age looks at the shape of bones and assesses their maturity anything that causes puberty
to be accelerated or delayed will do the same to bone growth.
Advanced bone age:- Congenital adrenal hyperplasia, McCune Albright syndrome

Delayed appearance of teeth is caused by which of the following?
Idiopathic growth hormone deficiency
Cystic fibrosis

Prader Willi syndrome- 55-70% have paternally derived deletion of the long arm of chromosome
15.They have severe hypotonic at birth, hypogonadism, small hands and feet.
Turner syndrome-karyotype is 45, xo. Clinical features are short stature, lymphoedema at
birth, dysplatic nails, streak ovaries, normal intelligence, and renal anomalies with premature
osteoporosis.
Klinefelters-47xxy. May be due to failure of the chromosomal pair to separate during meiosis
in either parent. It occurs in 1:1000 males; they are tall, reduced intellectual 10-15%, primary
hypoganadism, and female body fat distribution. Patient with klinefelter are chromatin positive
(they have Barr body visible in the nuclei of their cells).
Russell silver Sporadic. IUGR.Short stature, normal intelligence, small triangular shaped face,
narrow jaw, thin lips and carp-shaped mouth. Body asymmetries with hemi hypertrophy which
may not be present at birth and become increasingly apparent with age. Others present are
caf-au-lait patches, hypospadias and clinodactyly.
Hypochondroplasia is an autosomal dominant inheritance.80% as a result of spontaneous
mutation. Head is large compared to the body with prominent frontal, parietal and occipital
bones. Lumbar lordosis and vertebral disc herniation is common. Spinal stenosis results in root
compression that may cause neurological symptoms in lower limbs resulting in waddling gait.

Newborn infants with tetany develop rhythmic, focal, myoclonic jerks at a rate of 1-3/sec,
sometimes followed by fits.
Early neonatal hypocalcaemia appears in the first 72 hours after birth. It occurs primarily in
infants of product of complicated pregnancies, or deliveries, or both.
It occurs more commonly in infants of diabetic mothers or mothers with pre-eclamptic
toxaemia.
Late neonatal hypocalcaemia has peak occurrence around 6
th
day of life, and historically has
been primarily associated with high phosphate concentration in cows milk-based infant feeds.
This is now rare with modern formulae and is more often associated with hypoparathryoidism
or maternal disorders of calcium homeostasis.
Treatment is with intravenous infusion of 10% calcium gluconate giving at 0.2ml/kg slowly
under ECG monitoring with 2-4ml/kg/24hrs given as a maintenance dose. With persistent
convulsions, hypomagnesaemia should be sought and if confirmed, treated with MgSO
4
, given
as 0.2ml/kg of a 50% solution given every 4-8hrs.
Febrile convulsions typically occur between the ages of 6 month - 5 yrs with seizures provoked
by fever.
Infantile spasms occur 3 month - 1yr. Usually flexion-extension spasm M>F. EEG chaotic,
hypsarrhythmia.

Growth hormone therapy in children on long-term glucocorticoid treatment, both prevent protein
wasting and osteopenia.
Controversies still surround it use in short normal children and children categorised as having
idiopathic short stature. Studies suggest a modest increase in final height to the extent of 3-4cm.
Potential adverse effects during therapy need monitoring.

The hormonal changes start in the adrenal glands, two small organs that rest on top of either
kidney. These hormones send signals the hypothalamus and the pituitary glands. These in turn,
send hormonal signals to the gonads, which in the case of girls are the ovaries. This system of
signalling takes a couple of years to become fully established. Stages for the physical changes
are on a scale of 1-5 called Tanner staging.
Children who do not show any physical changes of puberty are at Tanner stage 1.
Adult who have completed puberty are at stage 5.
The first visible changes are development of breast buds known as Thelarche. This occurs
between ages 7-13 yrs and marks the transition to Tanner stage 2.
Following breast development is coarse, dark pubic hair (Adrenarche),generally limited to labia
major-This is called Tanner stage 2. Some girls (15%) will have the development of pubic hair
before breast.
The amount of the pubic hair increases to an almost adult level prior to the onset of menses
(Tanner stage 3).

The onset of the menstruation cycle (Menarche) begins about 2 to 2.5 years after breast
development.
The menstrual cycle can occur from ages 9 to 15 years; most girls do not have regular,
predictable menstrual cycle for another year or two. Most girls have their growth spurt in the
year preceding the onset of the menstrual cycle and will have reached close to their final adult
height, unlike the boys who have their growth spurt later in puberty.
Most girls stop having bone growth within 18-24 month after the onset of menses. Scoliosis is
more common in girls than boys.

Precocious Puberty is the onset of signs of Puberty before the ages 7 or 8 in girls and 9 in boys.
These can be physically and emotionally difficult for the children.
Signs are
Girls: Breast development, pubic or underarm hair development, rapid height growth, onset of
menstruation, acne, and mature body odour
Boys: Enlargement of testicles or penis, Pubic, underarm or facial hair development, rapid
height growth, acne, voice deepening, and mature body odour.
Those children who show some of the early signs of puberty have whats known as partial
precocious puberty and require evaluation to rule out true precocious puberty.
The onset of puberty is normally triggered by the hypothalamus. It signals the pituitary gland to
release hormones that stimulate the ovaries in girls or testicles in boys to make sex hormones.
Majority of girls, no underlying medical problem. In boys the condition is less common, and
more likely to be associated with an underlying medical problem.
5% of boys, precocious puberty is inherited from their father, less than 1% of girls affected by
precocious puberty have inherited the condition from their mother.

Delayed puberty means appearance of the following after 13 years of age in girls;
Breast development, pubic or underarm hair, onset of menstruation, acne, mature body odour
and growth spurt.
And the following after 14 years of age in boys, enlargement of the testicles or penis, pubic,
underarm or facial hair, growth spurt, voice deepening, acne and mature body odour.
Delayed puberty is common in boys and usually idiopathic. In girls it is rare and usually
pathological.

Constitutional delay
Constitutional delay in growth and puberty are usually in boys, they have slow growth
in the preceding 2-3 years before puberty, no other organic disease, there will be no
features to suggest hypopitutarism, hypogonadism and space occupying lesion. There
will be delayed bone age and short stature.
Turners syndrome
Turners syndrome is karyotype 45,xo will have coarctation of the aorta, ejection
systolic murmur on the right sternum at 2
nd
intercostals space. Others features are
lymph oedema at birth, dysplastic nail, short stature, ovarian dysgenesis, normal
intelligence, renal anomalies with premature osteoporosis.
Growth Hormone deficiency
Growth hormone deficiency produces a delay in bone age, consequently the children are short. A
deviation from the normal growth rate occurs after the age of about 6months. It also produces
hypoglycaemia early in life. Hypothyroidism also produces delay in bone age but the level is
normal in this child.
Provocation tests are required to confirm GH deficiency. Example is insulin stress test. Insulin is
injected into the child and growth hormone measured at 15,30,45,60 and 120min,with
hypoglycaemic symptom and signs occurring at 15-30min. There should be a reduction in basal
glucose value by more than 50% or <2.2mmol/l. If peak GH levels are less than <7mU/l then this
suggests GH deficiency and levels in excess of 15mU/l exclude the diagnosis.
Anorexia nervosa
Anorexia nervosa is a disturbed sense of body image with a morbid fear of obesity and relentless
pursuit of low body weight. Physically there is a body weight more than 25% below the standard
weight and there is often amenorrhea.
It is about 10 times more common in females, with average age of onset during adolescence, male
mean age 12 years, female 16 years.
Other features are constipation, postural hypotension, bradycardia, hypothermia, hypoglycaemia,
alopecia, cardiac arrhythmia, dental erosion and knuckle calluses (Russell sign) and tooth decay (as
a result of self induced vomiting).
Hormonal changes:
Decrease in FSH, LSH, testosterone, oestrodiol, T3, and T4
Increased in prolactin, GH and cortisol

Achondroplasia
Achondroplasia displays autosomal dominant inheritance. 80% as spontaneous
mutation. Endochondral bone formation is abnormal. Large head when compared to
the rest of the body. There are prominent frontal, parietal, and occipital bones. The
trunk is normal but the limbs abnormally short. They have small foramen magnum: the
resulting basilar compression may result in hydrocephalus.
Lumbar lordosis, vertebral disc herniation is common. Spinal stenosis results in root
compression which may cause neurological symptoms in the lower limbs resulting in
waddling gait and pelvic tilt.

Downs syndrome
Down syndrome (Trisomy 21). Incidence 1:800 live births, increases with maternal age.
Clinical features: Short stature, intellectual retardation (IQ < 50) and developmentally
delay. Brachycephaly, central hypotoniac in 80% and disappear with time.
Eye: Upward slanting palpebral fissures, brushfield, epicanthic folds, and cataracts.
Ear: Small ear, hearing defeat, frequent middle ear infection.
Mouth: Down turned mouth, protruding tongue. Congenital hypothyroidism occurs in
1:300 and autoimmune type presenting later in childhood.
Cardiac: Atrioventricular septa defeat occurs in 40%.
Bowel: Trachea-oesophageal atresia, duodenal atresia (10%) double bubble x-ray
appearance. Annular pancreas which can result in obstruction, hirschprung disease in
3%
Hand: Short and broad hands and fingers. Single palmer crease, clinodactyly.
Feet: Short and broad feet and toes, increase space between the first and second toe
(sandle toe)
Skin: Cutis marmorata, loosely adherent skin.
There is increased risk of leukaemia and Alzheimer disease linked to chromosome 21.

Klinefelters syndrome (47xxy)
The incidence is 1:500 to 1000 live births. There is tall stature for the family with
disproportionately long legs from childhood, small testes, and azoospermia.
There is marked gynaecomastia, hypogonadism or infertility. The long legs relate to
testosterone secretion being inadequate for epiphysial closure at appropriate time.
Pubertal onset is generally not delayed. Mean IQ is normal.

Zinc deficiency
Zinc, atomic number 30, is essential in structure and function of bio membranes. Zinc deficiency
may cause oxidation damage to membrane. Zinc absorption take place in small intestine. 60-80%
is absorbed.
Zinc deficiency is common in premature infants, the concentration of zinc in the foetal liver from
20-40 weeks gestation ranges from 100-300 microgram/g. Requirement for growth on average is
250 microgm/kg/day. Also deficiency is noticed in preterm infants breast-fed by mothers whose
mammary glands have a defective ability to secrete normal quantities of zinc into their milk.
Clinical features- Decreased growth, stomatitis, glossitis. Bright reddish, on-scaly maculaes and
patches acro-orificial distribution. (Acrodermatitis enteropathica)
Exematoid, psoriasifrom, vesiculo-bullous and pustular lesions may be present

Signs of motor delay are child not able to bring his hands together by 4 months, not rolling over by
6 months, not crawling by 12months and not walking by 15months. Speech delay: 5-6 months
most infants can say mama, dada. 10-20 months the ch ild should be able to say 4-6 words and 50
word vocabulary at 16-24 months.

Increase in testicular volume is the first sign of puberty in boys (from 10 years). Voice
change occurs at around 14 years. Peak height velocity is when testicular volume reaches 10
mL (pubic hair stage 4). There is a wide range in times of onset of the stages in individuals.