Paediatrics- Neuro, Development Flashcards

Question

WHat is Epilepsy

Answer 1

Epilepsy is an umbrella term for a condition where there is a tendency to have seizures. Seizures are transient episodes of **abnormal electrical activity** in the brain. There are many different types of seizure. A diagnosis of epilepsy is made by a specialist based on the characteristics of the seizure episodes.

Answer 2

Generalised Tonic-Clonic Seizures Focal Seizures Absence Seizures Atonic Seizures Myoclonic Seizures Infantile Spasms Febrile Convulsions

Answer 3

These are what most people think of with an epileptic seizure. There is loss of consciousness and **tonic** (muscle tensing) and **clonic** (muscle jerking) movements. Typically the tonic phase comes before the clonic phase. There may be associated tongue biting, incontinence, groaning and irregular breathing. After the seizure there is a prolonged **post-ictal period** where the person is confused, drowsy and feels irritable or low. Management of tonic-clonic seizures is with: * First line: **sodium valproate** * Second line: **lamotrigine** or **carbamazepine**

Answer 4

Focal seizures start in the **temporal lobes**. They affect hearing, speech, memory and emotions. There are various ways that focal seizures can present: * Hallucinations * Memory flashbacks * Déjà vu * Doing strange things on autopilot One way to remember the treatment is that the choice of medication is the reverse of tonic-clonic seizures: * First line: **carbamazepine** or **lamotrigine** * Second line: **sodium valproate** or **levetiracetam**

Answer 5

Absence seizures typically happen in children. The patient becomes blank, stares into space and then abruptly returns to normal. During the episode they are unaware of their surroundings and won’t respond. These typically only lasts 10 to 20 seconds. Most patients (more than 90%) stop having absence seizures as they get older. Management is: * First line: **sodium valproate or ethosuximide**

Answer 6

Atonic seizures are also known as **drop attacks.** They are characterised by brief lapses in muscle tone. These don’t usually last more than 3 minutes. They typically begin in childhood. They may be indicative of **Lennox-Gastaut syndrome**. Management is: * First line: **sodium valproate** * Second line: **lamotrigine**

Answer 7

Myoclonic seizures present as sudden brief muscle contractions, like a sudden “jump”. The patient usually remains awake during the episode. They occur in various forms of epilepsy but typically happen in children as part of **juvenile myoclonic epilepsy.** Management is: * First line: **sodium valproate** * Other options: **lamotrigine, levetiracetam or topiramate**

Answer 8

This is also known as **West syndrome.** It is a rare (1 in 4000) disorder starting in infancy at around 6 months of age. It is characterised by clusters of full body spasms. There is a poor prognosis: 1/3 die by age 25, however 1/3 are seizure free. It can be difficult to treat but first line treatments are: * Prednisolone * Vigabatrin

Answer 9

A good history is the key to a diagnosis of epilepsy. It is important to establish that any episodes were seizures, as opposed to vasovagal episodes or febrile convulsions. Try to identify the type of seizure. Patients with a clear history of a febrile convulsion or vasovagal episode do not require further investigations. An **electroencephalogram (EEG)** can show typical patterns in different forms of epilepsy and support the diagnosis. Perform an **EEG after the second** simple tonic-clonic seizure. Children are allowed one simple seizure before being investigated for epilepsy. An **MRI brain** can be used to visualise the structure of the brain. It is used to diagnose structural problems that may be associated with seizures and other pathology such as tumours. It should be considered when: * The first seizure is in children under 2 years * Focal seizures * There is no response to first line anti-epileptic medications **Additional investigations** can be considered to exclude other pathology that may cause seizures: * **ECG** to exclude problems in the heart. * **Blood electrolytes** including sodium, potassium, calcium and magnesium * **Blood glucose** for hypoglycaemia and diabetes * **Blood cultures, urine cultures** and **lumbar puncture** where sepsis, encephalitis or meningitis is suspected

Answer 10

Patients and families presenting with seizures need to be given advice about safety precautions, recognising, managing and reporting further seizures. It is important to avoid situations where a seizure may put the child in danger, with advise to: * Take showers rather than baths * Be very cautious with swimming unless seizures are well controlled and they are closely supervised * Be cautious with heights * Be cautious with traffic * Be cautious with any heavy, hot or electrical equipment Older teenagers with epilepsy will need to avoid driving unless they meet specific criteria regarding control of their epilepsy. These rules change frequently so it is always worth looking them up if advising patients.

Answer 11

This is a first line option for most forms of epilepsy (except focal seizures). It works by increasing the activity of GABA, which has a relaxing effect on the brain. Notable side effects of sodium valproate include: * Teratogenic, so patients need careful advice about contraception * Liver damage and hepatitis * Hair loss * Tremor There are a lot of warning about the **teratogenic effects of sodium valproate** and NICE updated their guidelines in 2018 to reflect this. It must be avoided in girls unless there are no suitable alternatives and strict criteria are met to ensure they do not get pregnant.

Answer 12

This is first line for focal seizures. Notable side effects are: * Agranulocytosis * Aplastic anaemia * Induces the P450 system so there are many drug interactions *

Answer 13

Notable side effects: * Folate and vitamin D deficiency * Megaloblastic anaemia (folate deficiency) * Osteomalacia (vitamin D deficiency)

Answer 14

Notable side effects: Night terrors Rashes

Answer 15

Notable side effects: * Stevens-Johnson syndrome or DRESS syndrome. These are life threatening skin rashes. * Leukopenia

Answer 16

* Put the patient in a safe position (e.g. on a carpeted floor) * Place in the recovery position if possible * Put something soft under their head to protect against head injury * Remove obstacles that could lead to injury * Make a note of the time at the start and end of the seizure * Call an ambulance if lasting more than 5 minutes or this is their first seizure

Answer 17

Status epilepticus is an important condition you need to be aware of and how to treat. It is a medical emergency. It is defined as a seizure lasting more than 5 minutes or 2 or more seizures without regaining consciousness in the interim.

Answer 18

* Secure the airway * Give high-concentration oxygen * Assess cardiac and respiratory function * Check blood glucose levels * Gain intravenous access (insert a cannula) * IV lorazepam, repeated after 10 minutes if the seizure continues If the seizures persist the final step is an infusion of **IV phenobarbital or phenytoin**. At this point intubation and ventilation to secure the airway needs to be considered, along with transfer to the intensive care unit if appropriate

Answer 19

Buccal midazolam Rectal diazepam

Answer 20

Breath holding spells are also known as breath holding attacks. They are **involuntary episodes** during which a child holds their breath, usually triggered by something upsetting or scaring them. They typically occur between 6 and 18 months of age. The child has no control over the breath holding spells. They are not harmful in the long term, do not lead to epilepsy and most children outgrow them by 4 or 5 years.

Answer 21

cyanotic breath holding spells and pallid breath holding spells (also known as reflex anoxic seizures).

Answer 22

**Cyanotic breath holding spells** occur when the child is really upset, worked up and crying. After letting out a long cry they stop breathing, become cyanotic and lose consciousness. Within a minute they regain consciousness and start breathing. They can be a bit tired and lethargic after an episode.

Answer 23

Reflex anoxic seizures occur when the child is startled. The vagus nerve sends strong signals to the heart that causes it to stop beating. The child will suddenly go pale, lose consciousness and may start to have some seizure-like muscle twitching. Within 30 seconds the heart restarts and the child becomes conscious again.

Answer 24

After excluding other pathology and making a diagnosis, educating and reassuring parents about breath holding spells is the key to management. Breath holding spells have been linked with **iron deficiency anaemia**. Treating the child if they are **iron deficiency anaemic** can help minimise further episodes.

Answer 25

* Tension headaches * Migraines * Ear, nose and throat infection * Analgesic headache * Problems with vision * Raised intracranial pressure * Brain tumours * Meningitis * Encephalitis * Carbon monoxide poisoning

Answer 26

Tension headaches are very common. Classically they produce a mild ache across the forehead and pain or pressure in a **band-like pattern** around the head. Tension headaches comes on and resolve gradually and don’t produce visual changes or pulsating sensations. They are typically symmetrical. Symptoms may be very non-specific in younger children. They may become quiet, stop playing, turn pale or become tired. They tend to resolve more quickly in children compared with adults, often within 30 minutes. There are certain **triggers** for tension headaches in children: * Stress, fear or discomfort * Skipping meals * Dehydration * Infection **Management** is with reassurance, analgesia, regular meals, avoiding dehydration and reducing stress.

Answer 27

Migraines are a complex neurological condition that cause headache and other associated symptoms. They occur in “attacks” that often follow a typical pattern. There are several types of migraine: * Migraine without aura * Migraine with aura * Silent migraine (migraine with aura but without a headache) * Hemiplegic migraine * Abdominal migraine

Answer 28

Unilateral More severe Throbbing in nature Take longer to resolve

Answer 29

Visual aura Photophobia and phonophobia Nausea and vomiting Abdominal pain

Answer 30

* Rest, fluids and low stimulus environment * Paracetamol * Ibuprofen * Sumatriptan * Antiemetics, such as domperidone (unless contraindicated)

Answer 31

* Propranolol (avoid in asthma) * Pizotifen (often causes drowsiness) * Topiramate (girls with child bearing potential need highly effective contraception as it is very teratogenic).

Answer 32

Nausea and vomiting Anorexia Headache Pallor

Answer 33

recurrent central abdominal pain as a child. They may have a history of abdominal migraine that started before the headaches

Answer 34

Hydrocephalus describes cerebrospinal fluid (CSF) building up abnormally within the brain and spinal cord. This is a result of either over-production of CSF or a problem with draining or absorbing CSF.

Answer 35

There are **four ventricles** in the brain: two **lateral ventricles, the third and the fourth ventricles.** The ventricles containing CSF. The CSF provides a cushion for the brain tissue. CSF is created in the four **choroid plexuses** (one in each ventricle) and by the walls of the ventricles. CSF is absorbed into the venous system by the **arachnoid granulations**.

Answer 36

The most common cause of hydrocephalus is **aqueductal stenosis**, leading to insufficiency drainage of CSF. The cerebral aqueduct that connects the third and fourth ventricle is stenosed (narrowed). This blocks the normal flow of CSF out of the third ventricle, causing CSF to build up in the lateral and third ventricles. Other causes: * **Arachnoid cysts** can block the outflow of CSF if they are large enough * **Arnold-Chiari malformation** is where the cerebellum herniates downwards through the foramen magnum, blocking the outflow of CSF * **Chromosomal abnormalities** and congenital malformations can cause obstruction to CSF drainage.

Answer 37

The cranial bones in babies are not fused at the sutures until around 2 years of age. Therefore, the skull is able to expand to fit the cranial contents. When a baby has hydrocephalus it causes outward pressure on the cranial bones. Therefore, babies with hydrocephalus will have an enlarged and rapidly increasing head circumference **(occipito-frontal circumference).** Other signs: * Bulging anterior fontanelle * Poor feeding and vomiting * Poor tone * Sleepiness

Answer 38

Placing a VP shunt that drains CSF from the ventricles into another body cavity is the mainstay of treatment for hydrocephalus. Usually the peritoneal cavity is used to drain CSF, as there is plenty of space and it is easily reabsorbed. The surgeon places a small tube (catheter) through a small hole in the skull at the back of the head and into one of the ventricles. A valve on the end of this tube is placed subcutaneously, and a catheter on the other side of the valve runs under the skin into the peritoneal cavity. The valve helps to regulate the amount of CSF that drains from the ventricles.

Answer 39

* Infection * Blockage * Excessive drainage * **Intraventricular haemorrhage** during shunt related surgery * Outgrowing them (they typically need replacing around every 2 years as the child grows)

Answer 40

Syncope is the term used to describe the event of temporarily **losing consciousness** due to a disruption of blood flow to the brain, often leading to a fall. Syncopal episodes are also known as **vasovagal episodes, or simply fainting.**

Answer 41

A vasovagal episode (or attack) is caused by a problem with the autonomic nervous system regulating blood flow to the brain. When the vagus nerve receives a strong stimulus, such as an emotional event, painful sensation or change in temperature it can stimulate the **parasympathetic nervous system**. Parasympathetic activation counteracts the **sympathetic nervous system**, which keeps the smooth muscles in blood vessels constricted. As the blood vessels delivering blood to the brain relax, the blood pressure in the cerebral circulation drops, leading to **hypoperfusion** of brain tissue. This causes the patient to lose consciousness and “faint”.

Answer 42

Patients often remember the event and can recall how they felt prior to fainting. This is called the prodrome, and involves feeling: * Hot or clammy * Sweaty * Heavy * Dizzy or lightheaded * Vision going blurry or dark * Headache A collateral history from someone that witnessed the event is essential to get an accurate impression of what happened. During a vasovagal episode they may describe the person: * Suddenly losing consciousness and falling to the ground * Unconscious on the ground for a few seconds to a minute as blood returns to their brain * There may be some twitching, shaking or convulsion activity, which can be confused with a seizure The patient may be a bit groggy following a faint, however this is different from the postictal period that follows a seizure. Postictal patients have a prolonged period of confusion, drowsiness, irritability and disorientation. There may be incontinence with both seizures and syncopal episodes.

Answer 43

* Dehydration * Missed meals * Extended standing in a warm environment, such as a school assembly * A vasovagal response to a stimuli, such as sudden surprise, pain or the sight of blood

Answer 44

* Hypoglycaemia * Dehydration * Anaemia * Infection * Anaphylaxis * Arrhythmias * Valvular heart disease * Hypertrophic obstructive cardiomyopathy

Answer 45

* Features that distinguish a syncopal episode from a seizure * After exercise? Syncope after exercise is more likely to be secondary to an underlying condition. * Triggers? * Concurrent illness? Do they have a fever or signs of infection? * Injury secondary to the faint? Do they have a head injury? * Associated cardiac symptoms, such as palpitations or chest pain? * Associated neurological symptoms? * Seizure activity? * Family history, particularly cardiac problems or sudden death?

Answer 46

* Are there any physical injuries as a result of the faint, for example a head injury? * Is there a concurrent illness, for example an infection or gastroenteritis? * Neurological examination * Cardiac examination, specifically assessing pulses, heart rate, rhythm and murmurs * Lying and standing blood pressure

Answer 47

* **ECG**, particularly assessing for arrhythmia and the QT interval for long QT syndrome * **24 hour ECG** if paroxysmal arrhythmias are suspected * **Echocardiogram** if structural heart disease is suspected * **Bloods,** including a full blood count (anaemia), electrolytes (arrhythmias and seizures) and blood glucose (diabetes)

Answer 48

Fainting is common in children, particularly in teenage girls. They usually resolve by the time they reach adulthood. The most important aspect of management is making a confident diagnosis and excluding other pathology. **Seizures or underlying pathology** need to be managed by an appropriate specialist. Once a simple vasovagal episode is diagnosed, reassurance and simple advice can be given to: * Avoid dehydration * Avoid missing meals * Avoid standing still for long periods * When experiencing prodromal symptoms such as sweating and dizziness, sit or lie down, have some water or something to eat and wait until feeling better

Answer 49

Muscular dystrophy is an umbrella term for genetic conditions that cause gradual weakening and wasting of muscles.

Answer 50

The main muscular dystrophy to know about for the purpose of exams is **Duchennes muscular dystrophy**. It is worth being aware of the others.

Answer 51

* Duchennes muscular dystrophy * Beckers muscular dystrophy * Myotonic dystrophy * Facioscapulohumeral muscular dystrophy * Oculopharyngeal muscular dystrophy * Limb-girdle muscular dystrophy * Emery-Dreifuss muscular dystrophy

Answer 52

Children with **proximal muscle weakness** use a specific technique to stand up from a lying position. This is called **Gower’s sign.** To stand up, they get onto their hands and knees, then push their hips up and backwards like the “downward dog” yoga pose. They then shift their weight backwards and transfer their hands to their knees. Whilst keeping their legs mostly straight they walk their hands up their legs to get their upper body erect. This is because the muscles around the pelvis are not strong enough to get their upper body erect without the help of their arm

Answer 53

The answer is X-linked recessive.

Answer 54

There is no curative treatment for muscular dystrophy. Management is aimed at allowing the person to have the highest quality of life for the longest time possible. This usually involves input from occupational therapy, physiotherapy and medical appliances (such as wheelchairs and braces) as well as surgical and medical management of complications such as spinal scoliosis and heart failure.

Answer 55

Duchennes muscular dystrophy is the most likely muscular dystrophy to turn up in your exams. It is caused by a defective gene for **dystrophin** on the **X-chromosome**. Dystrophin is a protein that helps hold muscles together at the cellular level. Given that boys have a single X-chromosome and girls have two, girls have a spare copy of the dystrophin gene. Female carriers of the condition do not usually notice any symptoms. This makes Duchennes muscular dystrophy an **X-linked recessive** condition. If a mother is a **carrier** (meaning she has one faulty gene) and she has a child, that child will have a 50% change of being a carrier if they female and 50% change of having the condition if they are male.

Answer 56

Boys with Duchennes present around **3 – 5** years with weakness in the muscles around their pelvis. The weakness tends to be progressive and eventually all muscles will be affected. They are usually wheelchair bound by the time they become a teenager. They have a life expectance of around **25 – 35** years with good management of the cardiac and respiratory complications.

Answer 57

**Oral steroids** have been shown to slow the progression of muscle weakness by as much as two years. **Creatine** supplementation can give a slight improvement in muscle strength. Genetic trials are ongoing.

Answer 58

Beckers muscular dystrophy is very similar to Duchennes, however the **dystrophin** gene is less severely affected and maintains some of its function. The clinical course is less predictable than Duchennes. Symptoms only start to appear around 8 – 12 years. Some patient require wheelchairs in their late 20s or 30s . Others able to walk with assistance into later adulthood. Management is similar to Duchennes.

Answer 59

Progressive muscle weakness Prolonged muscle contractions Cataracts Cardiac arrhythmias

Answer 60

The key feature of myotonic dystrophy to remember is the **prolonged muscle contraction.** This may present in exams with a patient that is unable to let go after shaking someones hand, or unable to release their grip on a doorknob after opening a door. When doing an upper limb neurological examination always shake the patients hand and observe for difficulty releasing their grip.

Answer 61

**Facioscapulohumeral Muscular Dystrophy** Facioscapulohumeral muscular dystrophy usually presents in childhood with weakness around the face, progressing to the shoulders and arms. A classic initial symptom is sleeping with their eyes slightly open and weakness in pursing their lips. They are unable to blow their cheeks out without air leaking from their mouth. **Oculopharyngeal Muscular Dystrophy** Oculopharyngeal muscular dystrophy usually presents in late adulthood with weakness of the ocular muscles (around the eyes) and pharynx (around the throat) as the name suggests. It typically presents with bilateral ptosis, restricted eye movement and swallowing problems. Muscles around the limb girdles are also affected to varying degrees. **Limb-girdle Muscular Dystrophy** Limb-girdle muscular dystrophy usually presents in teenage years with progressive weakness around the limb girdles (hips and shoulders). **Emery-Dreifuss Muscular Dystrophy** Emery-Dreifuss muscular dystrophy usually presents in childhood with contractures, most commonly in the elbows and ankles. Contractures are shortening of muscles and tendons that restrict the range of movement in limbs. Patients also suffer with progressive weakness and wasting of muscles, starting with the upper arms and lower legs.

Answer 62

Spinal muscular atrophy (SMA) is a rare autosomal recessive condition that causes a progressive loss of motor neurones, leading to **progressive muscular weakness.** Spinal muscular atrophy affects the lower motor neurones in the spinal cord. This means there will be lower motor neurone signs, such as fasciculations, reduced muscle bulk, reduced tone, reduced power and reduced or absent reflexes.

Answer 63

**SMA type 1** has an onset in the first few months of life, usually progressing to death within 2 years. **SMA type 2** has an onset within the first 18 months. Most never walk, but survive into adulthood. **SMA type 3** has an onset after the first year of life. Most walk without support, but subsequently loose that ability. Respiratory muscles are less affected and life expectancy is close to normal. **SMA type 4** has an onset in the 20s. Most will retain the ability to walk short distances but require a wheelchair for mobility. Everyday tasks can lead to significant fatigue. Respiratory muscles and life expectancy are not affected.

Answer 64

There is no cure for spinal muscular atrophy. Management is supportive and involves the **multi-disciplinary team.** **Physiotherapy** can be helpful in maximising strength in the muscles and retaining respiratory function. Splints, braces and wheelchairs can be used to maximise function. Respiratory support with non-invasive ventilation may be required to prevent hypoventilation and respiratory failure, particularly during sleep. Children with **SMA type 1** may require a tracheostomy with mechanical ventilation, which can dramatically extend life by supporting failing respiratory muscles. **Percutaneous endoscopic gastrostomy (PEG)** feeding may be required when a weak swallow makes swallowing unsafe.

Answer 65

Gross motor Fine motor Language Personal and social

Answer 66

Gross motor refers to the child’s development of large movements, such as sitting, standing, walking and posture. Development in this area happens from the head downwards:

Answer 67

**4 months:** This starts with being able to **support their head and keep it in line with the body** **6 months:** They can keep their trunk supported on their pelvis (i.e. **maintain a sitting position**) by 6 months, however they often don’t have the balance to sit unsupported at this stage. **9 months:** They should sit **unsupported by 9 months.** They can start crawling at this stage. They can also keep their trunk and pelvis supported on their legs (i.e. maintain a standing position) and bounce on their legs when supported. **12 months:** They **should stand and begin cruising** (walking whilst holding onto furniture). **15 months:** Walk unaided. **18 months:** Squat and pick things up from the floor. **2 years:** Run. Kick a ball. **3 years:** Climb stairs one foot at a time. Stand on one leg for a few seconds. Ride a tricycle. **4 years:** Hop. Climb and descend stairs like an adult.

Answer 68

Fine motor refers to a the child’s development of precise and skilled movements, and also encompasses their visual development and hand-eye coordination.

Answer 69

**_Early Milestones:_** **8 weeks:** Fixes their eyes on an object 30 centimetres in front of them and makes an attempt to follow it. They show a preference for a face rather than an inanimate object. **6 months:** Palmar grasp of objects (wraps thumb and fingers around the object). **9 months:** Scissor grasp of objects (squashes it between thumb and forefinger). **12 months:** Pincer grasp (with the tip of the thumb and forefinger). **14-18 months:** They can clumsily use a spoon to bring food from a bowl to their mouth.

Answer 70

**_Drawing Skills:_** **12 months:** Holds crayon and scribbles randomly **2 years:** Copies vertical line **2.5 years:** Copies horizontal line **3 years:** Copies circle **4 years:** Copies cross and square **5 years:** Copies triangle

Answer 71

**_Tower of Bricks:_** **14 months:** Tower of 2 bricks **18 months:** Tower of 4 bricks **2 years:** Tower of 8 bricks **2.5 years:** Tower of 12 bricks **3 years:** Can build a 3 block bridge or train **4 years:** Can build steps

Answer 72

**_Pencil Grasps:_** **Under 2 years:** Palmar supinate grasp (fist grip) **2-3 years:** Digital pronate grasp **3-4 years:** Quadrupod grasp or static tripod grasp **5 years:** Mature tripod grasp

Answer 73

**_Others:_** **3 years:** Can thread large beads onto string. Can make cuts in the side of paper with scissors. **4 years:** Can cut paper in half using scissors

Answer 74

Expressive language Receptive language

Answer 75

**_Expressive language milestones:_** **3 months:** Cooing noises **6 months:** Makes noises with consonants (starting with g, b and p) **9 months:** Babbles, sounding more like talking but not saying any recognisable words **12 months:** Says single words in context, e.g. “Dad-da” or “Hi” **18 months:** Has around 5 – 10 words **2 years:** Combines 2 words. Around 50+ words total. **2.5 years:** Combines 3 – 4 words **3 years:** Using basic sentences **4 years:** Tells stories

Answer 76

**_Receptive language milestones:_** **3 months:** Recognises parents and familiar voices and gets comfort from these **6 months:** Responds to tone of voice **9 months:** Listens to speech **12 months:** Follows very simple instructions **18 months:** Understands nouns, for example “show me the spoon” **2 years:** Understands verbs, for example “show me what you eat with” **2.5 years:** Understands propositions (plan of action), for example “put the spoon on / under the step” **3 years:** Understands adjectives, for example “show me the red brick” and “which one of these is bigger?” **4 years:** Follows complex instructions, for example “pick the spoon up, put it under the carpet and go to mummy”

Answer 77

**18 months:** 1 key word, for example “show me the spoon” **2 years:** 2 key words, for example “show me the spoon and the cup” **3 years:** 3 key words, for example “put the spoon under the step” **4 years:** 4 key words, for example “put the red spoon under the step”

Answer 78

Personal and social refers to the child’s development of skills in interacting, communicating, playing and building relationships:

Answer 79

**6 weeks:** Smiles **3 months:** Communicates pleasure **6 months:** Curious and engaged with people **9 months:** They become cautious and apprehensive with strangers **12 months:** Engages with others by pointing and handing objects. Waves bye bye. Claps hands. **18 months:** Imitates activities such as using a phone **2 years:** Extends interest to others beyond parents, such as waving to strangers. Plays next to but not necessarily with other children (parallel play). Usually dry by day. **3 years:** They will seek out other children and plays with them. Bowel control. **4 years:** Has best friend. Dry by night. Dresses self. Imaginative play.

Answer 80

* Lost developmental milestones * Not able to hold an object at 5 months * Not sitting unsupported at 12 months * Not standing independently at 18 months * Not walking independently at 2 years * Not running at 2.5 years * No words at 18 months * No interest in others at 18 months

Answer 81

Failure to thrive refers to poor physical growth and development in a child.

Answer 82

* One or more centile spaces if their birthweight was below the 9th centile * Two or more centile spaces if their birthweight was between the 9th and 91st centile * Three or more centile spaces if their birthweight was above the 91st centile

Answer 83

* Inadequate nutritional intake * Difficulty feeding * Malabsorption * Increased energy requirements * Inability to process nutrition

Answer 84

* Maternal malabsorption if breastfeeding * Iron deficiency anaemia * Family or parental problems * Neglect * Availability of food (i.e. poverty) *

Answer 85

* Poor suck, for example due to cerebral palsy * Cleft lip or palate * Genetic conditions with an abnormal facial structure * Pyloric stenosis

Answer 86

* Cystic fibrosis * Coeliac disease * Cows milk intolerance * Chronic diarrhoea * Inflammatory bowel disease

Answer 87

* Hyperthyroidism * Chronic disease, for example congenital heart disease and cystic fibrosis * Malignancy * Chronic infections, for example HIV or immunodeficiency

Answer 88

* Pregnancy, birth, developmental and social history * Feeding or eating history * Observe feeding * Mums physical and mental health * Parent-child interactions * Height, weight and BMI (if older than 2 years) and plotting these on a growth chart * Calculate the mid-parental height centile

Answer 89

(weight in kg) / (height in meters)2

Answer 90

(height of mum + height of dad) / 2.

Answer 91

Urine dipstick, for urinary tract infection Coeliac screen (anti-TTG or anti-EMA antibodies) Further investigations are usually not necessary where there are no other clinical concerns. Focused investigations should be considered where additional signs or symptoms suggest an underlying diagnosis, such a**s cystic fibrosis or pyloric stenosis.**

Answer 92

Management depends on the cause and may involve input from the multidisciplinary team Where difficulty with breastfeeding is the cause, there are lots of ways for the mother to get support, including midwives, health visitors, peers groups and “lactation consultants”. Supplementing with formula milk is likely to successfully improve growth, * Encouraging regular structured mealtimes and snacks * Reduce milk consumption to improve appetite for other foods * Review by a dietician * Additional energy dense foods to boost calories * Nutritional supplements drinks

Answer 93

Where other measures fail and there are serious concerns the multidisciplinary team may consider **enteral tube feeding**. This needs to have clear goals and a defined end point.

Answer 94

Weaning refers to the gradual **transition from milk to normal food.** Weaning usually starts around **6 months of age.** It starts with pureed foods that are easy to palate, swallow and digest, for example pureed fruit and “baby rice”. Over 6 months this will progress towards a healthy diet resembling an older child, supplemented with milk and snacks to 1 year of age.

Answer 95

It is acceptable for **breast fed babies** to loose up to **10% and formula fed** babies to loose up to 5% of their body weight by **day 5** of life. They should be back at their birth weight by **day 10.** If they loose more weight than this or do not regain their birth weight by two weeks, they need admission to hospital and assessment for possible causes. The most common cause of excessive weight loss or not regaining weight is **dehydration** due to under feeding, even when they do not clinically look dehydrated. The most reliable sign of dehydration in babies is weight loss.

Answer 96

here is evidence that breastfeeding can reduce **breast cancer** and **ovarian cancer** risk in the mother.

Answer 97

Boys: (mother height + fathers height + 14cm) / 2 Girls: (mothers height + father height – 14cm) / 2

Answer 98

Short stature is defined as a height more than 2 standard deviations below the average for their age and sex. This is the same as being below the 2nd centile.

Answer 99

* **Familial short stature** * **Constitutional delay in growth and development** * **Malnutrition** * **Chronic diseases**, such as coeliac disease, inflammatory bowel disease or congenital heart disease * **Endocrine disorders**, such as hypothyroidism * **Genetic conditions,** such as Down syndrome * **Skeletal dysplasias**, such as achondroplasia

Answer 100

Constitutional delay in growth and puberty (CDGP) is considered a variation on normal development. It leads to short stature in childhood when compared with peers but normal height in adulthood. Puberty is delayed and the growth spurt during puberty lasts longer. They ultimately reach their predicted adult height.

Answer 101

A key feature of CDGP is **delayed bone age.** It is possible to estimate the age of a child using xray images of their wrist and hand by assessing the size and shape of the bones and the **growth plates**. Children with CDGP will have a delayed bone age compared with the reference for their age and sex

Answer 102

* Down’s syndrome * Fragile X syndrome * Fetal alcohol syndrome * Rett syndrome * Metabolic disorders

Answer 103

* Cerebral palsy * Ataxia * Myopathy * Spina bifida * Visual impairment

Answer 104

* Dyspraxia * Cerebral palsy * Muscular dystrophy * Visual impairment * Congenital ataxia (rare) *

Answer 105

* Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking * Hearing impairment * Learning disability * Neglect * Autism * Cerebral palsy

Answer 106

Management of language delay involves a referral to speech and language, audiology and the health visitor. Referral to **safeguarding** is required if **neglect** is a concern.

Answer 107

* Emotional and social neglect * Parenting issues * Autism *

Answer 108

Learning disability is a general umbrella term encompassing a range of different conditions that affect the ability of the child to develop new skills. The amount they are affected varies from mild to severe. In mild cases the child may simply need extra time and help with learning new skills. In severe cases there can be significant intellectual impairment and they may need help with all activities of daily living.

Answer 109

**Dyslexia** refers to a specific difficulty in reading, writing and spelling. **Dysgraphia** refers to a specific difficulty in writing. **Dyspraxia**, also known as developmental co-ordination disorder, refers to a specific type of difficulty in physical co-ordination. It is more common in boys. It presents with delayed gross and fine motor skills and a child that appears clumsy. **Auditory processing disorder** refers to a specific difficulty in processing auditory information. **Non-verbal learning disability** refers to a specific difficulty in processing non-verbal information, such as body language and facial expressions. **Profound and multiple learning disability** refers to severe difficulties across multiple areas, often requiring help with all aspects of daily life.

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* 55 – 70: Mild * 40 – 55: Moderate * 25 – 40: Severe * Under 25: Profound

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Often there is no clear cause for the learning disability. A **family history** of learning disability increases the risk. **Environmental** factors such as abuse, neglect, psychological trauma and toxins can all increase the risk.

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* Genetic disorders such as Downs syndrome * Antenatal problems, such as fetal alcohol syndrome and maternal chickenpox * Problems at birth, such as prematurity and hypoxic ischaemic encephalopathy * Problems in early childhood, such as meningitis * Autism * Epilepsy

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Health visitors Social workers Schools Educational psychologists Paediatricians, GPs and nurses Occupational therapists Speech and language therapists

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* Understand the decision that needs to be made * Retain the information long enough to make the decision * Weight up the options and the implications of choosing each option * Communicate their decision

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Puberty starts age **8 – 14** in girls and **9 – 15** in boys. It takes about **4** years from start to finish. Girls have their pubertal growth spurt **earlier** in puberty than boys.

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In girls, puberty starts with the development of **breast buds**, then **pubic hair** and finally starting menstrual periods about **2** years from the start of puberty.

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In boys, puberty starts with enlargement of the **testicles,** then of the **penis**, gradual darkening of the scrotum, development of **pubic hair** and deepening of the voice.

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The tanner scale can be used to determine the pubertal stage based on examination findings of sex characteristics.

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Hypogonadism refers to a lack of the sex hormones, oestrogen and testosterone, that normally rise prior to and during puberty. A lack of these hormones causes a delay in puberty.

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* **Hypogonadotrophic hypogonadism**: a deficiency of LH and FSH * **Hypergonadotrophic hypogonadism**: a lack of response to LH and FSH by the gonads (the testes and ovaries)

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Hypogonadotropic hypogonadism is where there is a **deficiency of LH and FSH,** leading to a deficiency of the sex hormones **testosterone and oestrogen**. LH and FSH are gonadotrophins. Since there are no gonadotrophins simulating the gonads, they do not respond by producing sex hormones (testosterone and oestrogen). Therefore, you get **“hypogonadism”** as a result of **“hypogonadotropism”.**

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* Previous damage to the **hypothalamus or pituitary**, for example by radiotherapy or surgery for previous cancer * **Growth hormone deficiency** * **Hypothyroidism** * **Hyperprolactinaemia (high prolactin)** * **Serious chronic conditions** can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease) * **Excessive exercise** or dieting can delay the onset of menstruation in girls * **Constitutional delay** in growth and development is a temporary delay in growth and puberty without underlying physical pathology * **Kallman syndrome**

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Hypergonadotropic hypogonadism is where the gonads **fail to respond to stimulation** from the gonadotrophins (LH and FSH). There is **no negative feedback** from the sex hormones (testosterone and oestrogen), therefore the anterior pituitary **produces increasing amounts of LH and FSH** to try harder to stimulate the gonads. Therefore, you get high gonadotrophins (“hypergonadotrophic”) and low sex hormones (“hypogonadism”).

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* Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps) * Congenital absence of the testes or ovaries * Kleinfelter’s Syndrome (XXY) * Turner’s Syndrome (XO)

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Kallman syndrome is a genetic condition causing hypogonadotrophic hypogonadism, resulting in failure to start puberty. It is associated with a reduced or absent sense of smell (anosmia).

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**Initial investigations** can be used to look for underlying medical conditions: * Full blood count and ferritin for anaemia * U&E for chronic kidney disease * Anti-TTG or anti-EMA antibodies for coeliac disease **Hormonal blood tests** can be used to look for hormonal abnormalities: * Early morning serum FSH and LH (the gonadotropins). These will be low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism. * Thyroid function tests * Growth hormone testing. Insulin-like growth factor I is often used as a screening test for GH deficiency. * Serum prolactin **Genetic testing** with a microarray test can be used to look for underlying genetic conditions: * Kleinfelter’s syndrome (XXY) * Turner’s syndrome (XO) **Imaging** can be useful: * Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay * Pelvic ultrasound in girls to assess the ovaries and other pelvic organs * MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

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Management involves treating the underling condition where there is one. Patients with constitutional delay may only require reassurance and observation. Replacement sex hormones (oestrogen in girls and testosterone in boys) can be used to induce puberty under expert guidance.

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Physical Emotional Sexual Neglect Financial Identity

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* Domestic violence * Previously abused parent * Mental health problems * Emotional volatility in the household * Social, psychological or economic stress * Disability in the child * Learning disability in the parents * Alcohol misuse * Substance misuse * Non-engagement with services

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It is worth keeping safeguarding in mind when seeing any child. There are certain signs that should make you consider whether there could be safeguarding issues. This is not an exhaustive list. If in doubt always talk to a senior or someone experienced with safeguarding. * Change in behaviour or extreme emotional states * Dissociative disorders (feeling separated from their thoughts or identity) * Bullying, self harm or suicidal behaviours * Unusually sexualised behaviours * Unusual behaviour during examination * Poor hygiene * Poor physical or emotional development * Missing appointments or not complying with treatments

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* Home visit programmes to support parents * Parenting programmes to help parents develop parenting skills and manage their child’s behaviour * Attachment-based interventions to help parents bond and nurture their child * Child–parent psychotherapy * Parent–child interaction therapy * Multi-systemic therapy for child abuse and neglect (MST-CAN) * Cognitive behavioural therapy for children that have suffered trauma or sexual abuse

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Gillick competence refers to a judgement about the whether the understanding and intelligence of the child is sufficient to consent to treatment. Gillick competence needs to be assessed on a **decision by decision basis**, checking whether the child understands the implications of the treatment. Consent needs to be given voluntarily. When prescribing contraception to children under 16 it is important to assess for coercion or pressure, for example **coercion by an older partner**. This might raise safeguarding concerns.

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1. They are mature and intelligent enough to understand the treatment 2. They can’t be persuaded to discuss it with their parents or let the health professional discuss it 3. They are likely to have intercourse regardless of treatment 4. Their physical or mental health is likely to suffer without treatment 5. Treatment is in their best interest Children should be encouraged to inform their parents, but if they decline and meet the criteria for Gillick competence and the Frazer guidelines confidentiality can be kept.

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Children under 13 cannot give consent for **sexual activity**. All intercourse in children under 13 years should be escalated as a safeguarding concern to a senior or designated child protection doctor.