A 2 year old child who is developing normally should be able to point to three body parts, identify familiar objects in his environment such as a crayon or a toy and follow simple instructions.At 3 years old he should be able to copy a circle, jump up and down and name three colours.

6 month old milestones:Social and Emotional:Knows familiar faces and begins to know if someone is a stranger Likes to play with others, especially parents Responds to other people’s emotions and often seems happy Likes to look at self in a mirror Language/Communication:Responds to sounds by making sounds Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with parent while making sounds Responds to own name Makes sounds to show joy and displeasure Begins to say consonant sounds (jabbering with “m,” “b”) Cognitive (learning, thinking, problem-solving):Looks around at things nearby Brings things to mouth Shows curiosity about things and tries to get things that are out of reach Begins to pass things from one hand to the other Movement/Physical Development:Rolls over in both directions (front to back, back to front) Begins to sit without support When standing, supports weight on legs and might bounce Rocks back and forth, sometimes crawling backwards before moving forward

The Moro reflex is a normal primitive, infantile reflex. It can be seen as early as 25 weeks postconceptional age and usually is present by 30 weeks postconceptional age.6 month old milestones:Social and Emotional:Knows familiar faces and begins to know if someone is a stranger Likes to play with others, especially parents Responds to other people’s emotions and often seems happy Likes to look at self in a mirror Language/Communication:Responds to sounds by making sounds Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with parent while making sounds Responds to own name Makes sounds to show joy and displeasure Begins to say consonant sounds (jabbering with “m,” “b”) Cognitive (learning, thinking, problem-solving):Looks around at things nearby Brings things to mouth Shows curiosity about things and tries to get things that are out of reach Begins to pass things from one hand to the other Movement/Physical Development:Rolls over in both directions (front to back, back to front) Begins to sit without support When standing, supports weight on legs and might bounce Rocks back and forth, sometimes crawling backwards before moving forward

Among the provided options, we would expect a normally developing six-month-old child to have lost Moro’s reflex.Note:The Moro reflex is present from birth and persists until 4 months of age. It is abnormal for the Moro reflex to persist much beyond this stage, and if it does, cerebral palsy should be considered.A normal 6-month old baby should be able to roll over from front to back, readily follow objects with their eyes, transfer objects from hand to hand, recognise parental voices and babble and laugh.Other options:- Having a pincer grip is more typical of a 9-12-month-old.- Although at 6 months babies are often able to sit briefly or with support, sitting steadily is typically seen at 9 months.- Starting to stand with support is more typical of a 9-12-month-old.- Waving bye-bye is more typical of a 9-12-month-old.

Among the provided options, we would expect a normally developing 18-month-old child to be able to carry toys while walking.At 18 months, a normally developing child will show the following gross motor abilities:- 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- carry toys while walking.Other options:- Intentionally kicking a ball is a skill typically acquired by 2.5 years, not 18 months.- Jumping with two feet together from a small step is usually acquired by 2.5 years, not 18 months.- Propelling a tricycle forwards by pushing with the feet on the floor is a milestone generally acquired by 2 years, not 18 months.- Throwing a small ball overhand without falling is a milestone for children aged 2 years, not 18 months.

By 15 months, it’s common for many toddlers to:- say three to five words.- understand and follow simple commands.- point to one body part.- walk alone and begin to run.- climb on furniture.- make marks with a crayon.- imitate activities, such as housework.

Among the options provided, an 8-week-old full-term infant with normal developmental milestones will smile in response to appropriate stimuli.Rationale:Smiles in response to appropriate stimuli are seen from around 6 weeks of age. A social smile, where the infant has an awareness that a smile attracts attention, is not observed until around 3 months of age.Other options:- At 6 weeks an infant is able to follow objects in the horizontal plane through 90 deg| fixing and following an object through 180 deg in the horizontal plane is a milestone achieved at 3 months, as is pushing up onto forearms. – Pushing up onto hands occurs by around 5 months.- Infants of 3 months should startle to a 60 dB sound.

By the age of three months a child should become more fascinated with their hands and fingers| they can bring their hand to their mouth, open and close their hand, and shake and grab at dangling objects and toys. Their ability to roll over will come by the time the child is 6 months, at which time they will also be able to sit with support. Soon, at 8-9 months, attempts will be made to crawl and as they approach 12 months they will be able to pull on objects to stand.

A 3 year old should be able to match two colours, copy a circle, walk up and down the stairs, and jump up and down. By the time they are 4 they can copy a cross, draw a person with three parts, count to 10, stand on one foot.

Children are able to use a palmar grasp by the age of 6 months and use a pincer grasp by the age of 9 to 10 months. They can sit with support by 6 months and sit without support by 7 to 9 months. They can vocalize by 3 months. Stranger fear appears from 7 to 10 months. So this baby’s development is normal.

Toe walking refers to a pattern of walking in which the infants walk on the balls of their feet, without putting the heel of the feet on the ground. It is considered normal under the age of 2 years, but if it continues beyond that, it can signify some underlying pathology. The diseases that can be associated with toe walking include unilateral hip dislocation, Spinal tumours, Duchenne muscular dystrophy, prematurity, and cerebral palsy. Waardenburg’s syndrome is an autosomal dominant disorder, causing sensorineural deafness, and heterochromatic irises. Toe walking is not a feature.

Fine motor development involves greater use of the hands to perform more precise tasks. By 6 -12 months children should be able to reach for small objects and pass an object from one hand to the other. From 1 -2 years they can perform more complex tasks such a building a tower of blocks, feeding themselves, and turning knobs. In terms of pencil skills, they should be able to imitate scribbles and then spontaneously scribble. By the age of 2 years they can draw a line, and by three they can draw a circle. From the age of 3.5 they can draw a cross, 4.5 – a square, 5 – a triangle, and 6 a diamond.

Based on the presentation, the developmental age of the child is 8 months.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 neck reflex (ATNR)- Parachute reflex- Plantar reflex- Tendon reflex- ClonusIt is interesting to note that gastrocolic reflex is not a primitive reflex.Ninety-five per cent of reflexes will have disappeared by the ages shown below:- 6 weeks: Stepping- 3-4 months: Palmar grasp and Moro- 6 months: Sucking, rooting, and asymmetrical tonic neck reflex (ATNR)

Milestones of 6 monthsSocial and EmotionalKnows familiar faces and begins to know if someone is a stranger Likes to play with others, especially parents Responds to other people’s emotions and often seems happy Likes to look at self in a mirror Language/CommunicationResponds to sounds by making sounds Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with the parent while making sounds Responds to own name Makes sounds to show joy and displeasure Begins to say consonant sounds (jabbering with “m,” “b”) Cognitive (learning, thinking, problem-solving)Looks around at things nearby Brings things to mouth Shows curiosity about things and tries to get things that are out of reach Begins to pass things from one hand to the other Movement/Physical DevelopmentRolls over in both directions (front to back, back to front) Begins to sit without support When standing, supports weight on legs and might bounce Rocks back and forth, sometimes crawling backwards before moving forward

PARACHUTE REFLEX: This reflex occurs in slightly older infants when the child is held upright and the baby’s body is rotated quickly to face forward (as in falling). The baby will extend his arms forward as if to break a fall, even though this reflex appears long before the baby walks.Newborn reflexes are:Rooting reflex:This reflex starts when the corner of the baby’s mouth is stroked or touched. The baby will turn his or her head and open his or her mouth to follow and root in the direction of the stroking. This helps the baby find the breast or bottle to start feeding. This reflex lasts about 4 months.Suck reflex:Moro reflex:The Moro reflex is often called a startle reflex. That’s because it usually occurs when a baby is startled by a loud sound or movement. In response to the sound, the baby throws back his or her head, extends out his or her arms and legs, cries, then pulls the arms and legs back in. This reflex lasts until the baby is about 2 months old.Tonic neck reflex:When a baby’s head is turned to one side, the arm on that side stretches out and the opposite arm bends up at the elbow. This is often called the fencing position. This reflex lasts until the baby is about 5 to 7 months old.Grasp reflex:Stroking the palm of a baby’s hand causes the baby to close his or her fingers in a grasp. The grasp reflex lasts until the baby is about 5 to 6 months old. A similar reflex in the toes lasts until 9 to 12 months.Stepping reflex:This reflex is also called the walking or dance reflex because a baby appears to take steps or dance when held upright with his or her feet touching a solid surface. This reflex lasts about 2 months.

18-month-old milestonesSocial and EmotionalLikes to hand things to others as play May have temper tantrums May be afraid of strangers Shows affection to familiar people Plays simple pretend, such as feeding a doll May cling to caregivers in new situations Points to show others something interesting Explores alone but with parent close by Language/CommunicationSays several single words Says and shakes head “no” Points to show someone what he wants Cognitive (learning, thinking, problem-solving)Knows what ordinary things are for| for example, telephone, brush, spoon Points to get the attention of others Shows interest in a doll or stuffed animal by pretending to feed Points to one body part Scribbles on his own Can follow 1-step verbal commands without any gestures| for example, sits when you say “sit down” Movement/Physical DevelopmentWalks alone May walk up steps and run Pulls toys while walking Can help undress herself Drinks from a cup Eats with a spoon

In a child with an age of 12 months – pincer grasp should be well developed. It is essential to have a good grasp of important milestones. Most 12-month-old children will be mobile, by standing holding onto a support, lifting one foot and moving it sideways (‘cruising’ around the furniture). They will demonstrate a neat pincer grasp, e.g. picking up a raisin or piece 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 chosen and put together deliberately by a child until after the second birthday (typically around the age of 30 months). Word combinations used earlier than this are likely to be an echo of a learnt phrase which may be understood by the child to be one single word even though they are a combination of more than one word (e.g. daddy, home). Building a tower of three cubes and following a one-step command such as ‘take off your socks’, is expected at 18 months.

Among the options provided, a 1-year-old child will be able to understand object permanence e.g. understands that objects continue to exist even when they can’t be seen, e.g. looking for a fallen toy.At the age of 1 year, children should have developed an accurate pincer grip and be able to see and co-ordinate and manipulate fairly small objects such as a raisin.Gross motor development varies, but the average 1-year-old should be able to stand and cruise around furniture or walk with their hands held but not necessarily walk unaided.Drinking from a cup will become established at around 15 months and scribbling at 18 months.

From the given clinical scenario, the peroxisomal disorder in question is Refsum’s disease.It is characterised by anosmia, early-onset retinitis pigmentosa (night blindness), chronic ataxia, variable neuropathy, deafness and ichthyosis. It is an inherited disorder of fatty acid oxidation with phytanic acid accumulation in the blood and tissues. This leads to the motor and sensory neuropathy. Other options:- Loss of sensation in extremities, dysarthria and diabetes is suggestive of Friedrich’s Ataxia. It is the most common autosomal recessive cause of ataxia. Associated features include dysarthria, scoliosis, diabetes and hypertrophic cardiomyopathy. – Numbness of the limbs, seizures and developmental delay suggests mitochondrial cytopathy such as NARP (Neuropathy, Ataxia and Retinitis Pigmentosa). Learning difficulties, developmental delays and convulsions are not uncommon, as with many mitochondrial disorders. – Rapid, chaotic eye movements, behaviour change and irritability, suggest opsoclonus-myoclonus syndrome. It is thought to be a Para infectious or paraneoplastic condition (secondary to neuroblastoma) linked to an abnormal immune response. Children present unwell with altered behaviour, irritability, ataxia, random chaotic eye movements and later myoclonus. – Sweet-smelling urine, lethargy and seizures suggest Maple Syrup Urine Disease (MSUD). It is an autosomal recessive organic acidaemia. There is a distinct sweet odour to the urine of affected individuals, particularly at times of acute illness. Without treatment, MSUD can lead to seizures, brain damage, coma and death. The most common and classic form affects babies shortly after birth, but variant forms may not be evident until later childhood.

Among the given options a 2-year-old child with normal developmental milestones will be able to pull and push large wheeled toys and squat to play with toys on the floor.Other options:- Bouncing and catching a ball is learnt by the age of 5.- The ability to pedal a tricycle should be attained by 3 years of age, not 2.- A child can walk on tip-toe by 2.5 and run on tip-toe by (option D) 3 years of age, not 2.- The ability to momentarily maintain balance using one leg (option E) should be attained by 3 years.

At the age of three years a child is to be able to dress and undress himself with supervision, eat with a spoon and fork, build a tower with 9 cubes, give their full name and copy a circle. The child will not be able to make good cuts with scissions until he is about 5 years old.

Primitive reflexes are central nervous system responses, many of which disappear as a child matures. Retention of these reflexes may point to atypical neurology such as in cerebral palsy or stroke. However, some persist into adulthood. The stepping reflex is present from birth and normally disappears by 6 weeks, while the moro reflex is present from birth to about 4 months. The asymmetrical tonic neck reflex disappears by about 6 months. Reflexes that persist include the head righting reflex which develops at 6 months, and the parachute reflex which develops at 9 months.

Not being able to form a sentence at the age of 18 months is quite normal. A combination of two words to form a sentence can be done by 2 years of age.

Milestones of 12-month-old child are as follows:Social and Emotional- Is shy or nervous with strangers- Cries when mom or dad leaves- Has favourite things and people camera- Shows fear in some situations- Hands you a book when he wants to hear a story- Repeats sounds or actions to get attention- Puts out arm or leg to help with dressing – Plays games such as “peek-a-boo” and “pat-a-cake” Language/Communication- Responds to simple spoken requests- Uses simple gestures, like shaking head “no” or waving “bye-bye”- Makes sounds with changes in tone (sounds more like speech)- Says “mama” and “dada” and exclamations like “uh-oh!”- Tries to say words you sayCognitive (learning, thinking, problem-solving)- Explores things in different ways, like shaking, banging, throwing- Finds hidden things easily- Looks at the right picture or thing when it’s named- Copies gestures- Starts to use things correctly| for example, drinks from a cup, brushes hair- Bangs two things together- Puts things in a container, takes things out of a container- Lets things go without help- Pokes with index (pointer) finger – Follows simple directions like “pick up the toy”Movement/Physical Development- Gets to a sitting position without help – Pulls up to stand, walks holding on to furniture (“cruising”)- May take a few steps without holding on- May stand alone

All the given development milestones are compatible with the given age.

This child is experiencing delayed speech. By the age of 2, a child should be able to combine at least 2 words to make a very simple sentence.

Generally, bed-wetting before age 7 isn’t a concern as the child may still be developing night-time bladder control. The child is less than 5 years and most children will outgrow bed-wetting on their own. Therefore only reassurance and behavioural therapy are suggested at this stage.

If a child is not saying single words with meaning by 18 months it suggests that he or she is not following normal developmental milestones and further investigation is needed. Children are usually expected to be dry by day at the age of 3 years and dry by night at the age of 4 years, however 10% of 5 year old children and 5% of 10 year old children still wet the bed.

A three-year child’s typical developmental milestones include walking up and down the stairs with alternating feet, jumping in a place with two feet together, and jumping forward for about 2 feet. The child can pedal a tricycle and can throw a ball over and underhand. An average child should start walking around 12-14 months of age and should be investigated as early as 18 months if they do not begin to walk. Skipping can be done by a child of 5 years of age. A child of 6-7 years of age can ride a bike with stabilizers and can balance on one foot for 20 seconds.

At the age of 18 months, Gertrude should be able to follow a one step command. At this age she would also be capable of putting words together in 1 or 2 word phrases, scribbling, throwing a ball, and building a tower of four cubes. At 2 she should be able to feed herself with a spoon or a fork, copy a vertical line, ride a tricycle, kick a ball and balance on one foot. Activities such as jumping will follow later on in her development at 3 years.