Children's Health - Neurology, Development and Learning / Cognition, Neurodiversity and Child and Adolescent Mental Health.

The types seen in adults and children include:

• Generalised tonic-clonic seizures

• Focal seizures

• Myoclonic seizures

• Tonic seizures

  • Atonic seizures

The types primarily seen in children include:

• Absence seizures

• Infantile spasms

  • Febrile convulsions

There are various symptoms associated with focal seizures, depending on the location of the abnormal electrical activity, such as:

• Déjà vu

• Strange smells, tastes, vision, or sound sensations

• Unusual emotions

• Abnormal behaviours

 

What is West syndrome

• Infantile spasms

• a rare disorder (1 in 4,000) that typically starts around six months of age

• Hypsarrhythmia is the characteristic EEG finding

 

Treatment of West syndrome

• High-dose oral prednisolone

• Vigabatrin

 

What are febrile convulsions

• tonic-clonic seizures that occur in children during a high fever.

• not caused by epilepsy or other pathology (e.g., meningitis or tumours)

 

Epidemiology of febrile seizures

• occur in children aged between 6 months and 5 years

•  One in three will have another febrile convulsion

 

What is Dravet syndrome

• autosomal dominant genetic condition that causes severe epilepsy starting in infancy

• typically starting around 6 months

• typically causes prolonged seizures triggered by hot environments or fevers

 

What is epilepsy

• Epilepsy is a condition characterised by seizures. Seizures are transient episodes of abnormal electrical activity in the brain.

Types of seizures in adults

• Generalised tonic-clonic seizures

• Partial seizures (or focal seizures)

• Myoclonic seizures

• Tonic seizures

  • Atonic seizures

What are generalised tonic-clonic seizures

• involve tonic (muscle tensing) and clonic (muscle jerking) movements associated with a complete loss of consciousness

• patients might experience aura

• There may be tongue biting, incontinence, groaning and irregular breathing

  • a prolonged post-ictal period

What are partial seizures

• occur in an isolated brain area, often in the temporal lobes

• affect hearing, speech, memory and emotions

• Patients remain awake during partial seizures

• They remain aware during simple partial seizures but lose awareness during complex partial seizures

 

There are various symptoms associated with partial seizures, depending on the location of the abnormal electrical activity:

• Déjà vu

• Strange smells, tastes, sight or sound sensations

• Unusual emotions

• Abnormal behaviours

 

What are myoclonic seizures

• present with sudden, brief muscle contractions, like an abrupt jump or jolt

• They remain awake

 

What are tonic seizures

• involve a sudden onset of increased muscle tone, where the entire body stiffens

  • only a few seconds, or at most a few minutes

What are atonic seizures

• involve a sudden loss of muscle tone, often resulting in a fall

• They last only briefly, and patients are usually aware during the episodes

  • They often begin in childhood

What syndrome is associated with atonic seizures

Lennox Gastaut syndrome

What is an absence seizure

• usually seen in children

• becomes blank, stares into space, and then abruptly returns to normal

• they are unaware of their surroundings and do not respond.

• These typically last 10 to 20 seconds

 

What is West syndrome

• Infantile spasms starting at around six months of age

• presents with clusters of full-body spasms

•  Hypsarrhythmia is the characteristic EEG finding

•  Treatment is with ACTH and vigabatrin

 

What are febrile convulsions

• tonic-clonic seizures that occur in children during a high fever

• not caused by epilepsy or other pathology (e.g., meningitis or tumours).

• do not usually cause any lasting damage

 

Investigations for epilepsy

• electroencephalogram (EEG)

• MRI brain

• ECG

• Serum 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

 

Safety precautions for epilepsy include:

• The DVLA will remove their driving licence until specific criteria are met (e.g., being seizure-free for one year)

• Taking showers rather than baths (drowning is a major risk in epilepsy)

  • Particular caution with swimming, heights, traffic and dangerous equipment

What are simple febrile convulsions

• generalised, tonic-clonic seizures.

• They last less than 15 minutes and only occur once during a single febrile illness.

 

Complex febrile convulsions involve any of the following:

• Partial or focal seizures

  • Lasts more than 15 minutes

• Occur multiple times during the same febrile illness

A typical presentation is a child with febrile seizure:

• Aged around 18 months

• A 2 – 5 minute tonic-clonic seizure

• Occurs during a high fever

 

The differential diagnoses of a febrile convulsion are:

• Epilepsy

• Meningitis, encephalitis or another neurological infection, such as cerebral malaria

• Intracranial space-occupying lesions (e.g., brain tumours or intracranial haemorrhage)

• Syncopal episode

• Electrolyte abnormalities (e.g., severe hyponatraemia)

• Trauma, including non-accidental injury

 

Key management steps for febrile seizures include:

• Exclude other pathology

• Make a diagnosis

• Identify and treat the underlying cause of the fever

• Explain and educate the parents

 

Advice to parents on managing future episodes of febrile convulsions includes:

• Stay with the child

  • Avoid moving them unless necessary (e.g., in a dangerous position)

• Remove nearby objects that could cause injury

• Protect their head from injury (e.g., with hands or a pillow to cushion their head)

• Place them in the recovery position

• Avoid putting anything in their mouth until they are fully recovered

• Call an ambulance if the seizure lasts more than 5 minutes

 

Febrile convulsions do not typically cause any lasting damage. One in three will have another febrile convulsion. The risk of developing epilepsy is:

• 1-2% for the general population

• 2-5% after a simple febrile convulsion

  • 4-10% after a complex febrile convulsion

What is Muscular Dystrophy

refers to a group of genetic conditions that cause gradual weakening and wasting of muscles.

Types of muscles dystrophy

• Duchenne muscular dystrophy

• Becker muscular dystrophy

• Myotonic dystrophy

• Facioscapulohumeral muscular dystrophy

• Oculopharyngeal muscular dystrophy

• Limb-girdle muscular dystrophy

  • Emery-Dreifuss muscular dystrophy

What is Duchenne muscular dystrophy

• Caused by a faulty gene on the X chromosome that makes dystrophin,

• a protein that helps hold muscles together at the cellular level.

  • The condition is inherited in an X-linked recessive pattern.

How does Duchenne muscular dystrophy present

• Boys typically present with pelvic muscle weakness at ages 2-5 years.

• Progressive weakness until wheelchair required

 

Management of Duchenne muscular dystrophy

• Oral steroids may slow the progression of muscle weakness.

 

What is Becker muscular dystrophy

• similar to Duchenne, except that the dystrophin gene is less severely affected and maintains some of its function

 

 

What is myotonic dystrophy

• an autosomal dominant genetic condition that usually presents in adulthood

 

Features of myotonic dystrophy

• Progressive muscle weakness

• Prolonged muscle contractions

• Cataracts

• Cardiac arrhythmias

• Frontal balding

• Testicular atrophy and infertility

  • Endocrine dysfunction

What is Spinal Muscular Atrophy

• a rare autosomal recessive condition caused by deletion or mutation of the SMN1 gene,

• leading to deficiency of survival motor neuron (SMN) protein

 

 

Spinal muscular atrophy affects the lower motor neurones in the spinal cord. This means there will be lower motor neurone signs:

• Fasciculations

• Reduced muscle bulk

• Reduced tone

• Reduced power

• Reduced or absent reflexes

 

Types of Spinal muscular atrophy

• SMA type 1: onset in the first few months of life, life expectancy 2yr old

• SMA type 2: onset in the first 18 months. Most never walk, but survive into adulthood

• SMA type 3: onset after the first year of life. Most walk without support, but subsequently lose that ability

• SMA type 4: onset in the 20s. Most will retain the ability to walk short distances but require a wheelchair for mobility

 

Management of spinal atrophy

• nusinersen and risdiplam increase production of the SMN protein

• Physiotherapy

• Respiratory support with non-invasive ventilation may be required

  • PEG feeding

What is cerebral palsy

• involves permanent neurological problems resulting from damage to the brain occurring in the antenatal, perinatal and early postnatal periods

 

Antenatal risk factors for cerebral palsy

• Maternal infection

  • Preeclampsia

• Multiple pregnancy

 

Perinatal risk factors for cerebral palsy

• Birth asphyxia

• Preterm birth

• Low birth weight

 

Postnatal risk factors for cerebral palsy

• Meningitis

• Severe neonatal jaundice

• Head injury

 

Type of Cerebral Palsy

• Spastic: Hypertonia (increased muscle tone) and loss of inhibitory upper motor neurone control (UMN damage)

• Dyskinetic: Problems with dystonia, athetoid movements and oral motor control (damage to the basal ganglia)

• Ataxic: Problems with coordinated movement (damage to the cerebellum)

• Mixed: Mixed problems

 

Patterns of Spastic Cerebral Palsy

• Monoplegia: One limb affected

• Hemiplegia: One side of the body is affected

• Diplegia: Both legs are affected (arms may also be less severely affected)

• Quadriplegia: Four limbs are affected more severely

 

Signs and symptoms of cerebral palsy become more evident during development:

• Failure to meet milestones

• Increased or decreased tone, generally or in specific limbs

• Hand preference below 18 months

• Problems with coordination, speech or walking

• Feeding or swallowing problems

• Learning difficulties

 

You can gain a lot of information about a child from their gait:

• Hemiplegic / diplegic gait: Upper motor neurone dysfunction

• Broad-based gait / ataxic gait: Cerebellar dysfunction

• High-stepping gait: Foot drop or a lower motor neurone dysfunction

• Waddling gait: Pelvic muscle weakness due to myopathy

• Antalgic gait (limp): Localised pain

 

Type of gait seen in cerebral palsy

• hemiplegic or diplegic gait

• caused by increased muscle tone and spasticity in the legs

 

Complications and Associated Conditions with cerebral palsy

• Learning disability

• Epilepsy

• Kyphoscoliosis (abnormal forward and sideways curvature of the spine)

• Muscle contractures (shortening of muscles, tendons and connective tissue, restricting joint movement)

• Hearing and visual impairment

• Gastro-oesophageal reflux

 

Management of cerebral palsy

• Physiotherapy

• Occupational therapy

• Speech and language therapy

• Dieticians

• Muscle relaxants (e.g., baclofen) for muscle spasticity and contractures

• Anti-epileptic drugs for seizures

• Glycopyrronium bromide for excessive drooling

 

What is autism spectrum disorder

• involves a range of impairments in social interaction, communication and behaviour

 

Deficits in social interaction in ASD may include:

• Lack of eye contact

• Delay in smiling

• Avoiding physical contact

• Unable to read non-verbal cues

• Difficulty establishing friendships

• Not displaying a desire to share attention (e.g., not playing with others)

 

Deficits in communication in ASD may include:

• Delay, absence or regression in language development

• Lack of appropriate non-verbal communication (e.g., smiling, eye contact, responding to others and sharing interest)

• Difficulty with imaginative or imitative behaviour

• Repetitive use of words or phrases

 

Deficits in behaviour in ASD may include:

• Repetitive behaviour and fixed routines

• Anxiety and distress with experiences outside their regular routine

• Stereotypical repetitive movements (e.g., self-stimulating movements, such as hand-flapping or rocking)

• Intense and deep interests that are persistent and rigid

• Greater interest in objects, numbers or patterns than in people

• Extremely restricted food preferences

 

Diagnosis of ASD

• involves assessment by child psychiatrists, clinical psychologists or paediatricians with a special interest

• involves a detailed evaluation of the child’s current and historical behaviour and communication

 

A multidisciplinary team for ASD can help support patients and carers (e.g., parents) with greater impairments. For example:

• Child and adolescent mental health services (CAMHS)

• Psychologists

• Speech and language specialists

• Dieticians

• Paediatricians

• Social workers

• Specially trained educators and special school environments

  • Charity organisations (e.g., National Autistic Society)

Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder with the core features of:

• Inattention (difficulty maintaining attention)

• Hyperactivity (excessive energy and activity)

  • Impulsivity (difficulty controlling impulses)

Factors for ADHD

• Genetic (there is significant heritability)

• Pregnancy-related factors (e.g., maternal smoking, premature birth and low birth weight)

• Environmental factors

 

Symptoms of ADHD  include:

• Short attention span

• Easily distracted

• Quickly moving from one activity to another

• Quickly losing interest in a task

• Inability to persist with and complete tasks

• Constantly moving or fidgeting

• Impulsive behaviour

• Difficulty managing time

 

Managing strategies for parents of children with ADHD include:

• A positive approach

• Structured routines

• Clear boundaries

• Plenty of physical activity

 

Examples of central nervous system stimulants used to treat ADHD include:

• Methylphenidate (usually first-line)

• Lisdexamfetamine

• Dexamfetamine

 

Examples of non-stimulant medications for ADHD, used where stimulants are not suitable or ineffective, include:

• Atomoxetine (selective norepinephrine reuptake inhibitor)

  • Guanfacine (alpha-2A adrenergic receptor agonist)

What medication monitoring requirements are needed for ADHD

• HR

• BP

• Height

• Weight

• Appetite

• Mood changes

 

Child developmental milestones can be separated into four major domains:

• Gross motor

• Fine motor

• Language

  • Personal and social

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:

• 4 months: Able to support their head and aligned with the body.

• 6 months: Can keep their trunk supported on their pelvis (e.g., maintain a sitting position) but often without the balance to sit unsupported at this stage.

• 9 months: Sit unsupported. Start crawling. Can keep their trunk and pelvis supported on their legs (e.g., maintain a standing position) and bounce on their legs when supported.

• 12 months: Stand unsupported and begin cruising (walking whilst holding onto furniture).

• 15 months: Walk unaided.

• 18 months: Squat and pick objects 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.

 

Developmental Milestones: fine motor Early Milestones:

• 8 weeks: Fixes their eyes on an object 30 centimetres in front of them and attempts to follow it. Prefers faces rather than an inanimate objects.

• 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.

 

Developmental Milestones: Drawing Skills:

• 12 months: Holds a crayon and scribbles.

• 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.

 

Developmental Milestones: 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.

Developmental Milestones: 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.

 

Language refers to the child’s development of understanding and using speech and language to communicate. There are two components:

• Expressive language

• Receptive language

 

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 recognisable words.

• 12 months: Says single words in context (e.g., “mama”, “dada”, “bye-bye” 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

 

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 (e.g., “show me the spoon”).

• 2 years: Understands verbs (e.g., “show me what you eat with”).

• 2.5 years: Understands propositions (plan of action) (e.g., “put the spoon on/under the step”).

• 3 years: Understands adjectives (e.g., “show me the red brick” and “which one of these is bigger?”)

  • 4 years: Follows complex instructions (e.g., “pick the spoon up, put it under the carpet and go to mummy”).

You can also think of receptive language in terms of the number of key words:

• 18 months: 1 key word (e.g., “show me the spoon”).

• 2 years: 2 key words (e.g., “show me the spoon and the cup”).

• 3 years: 3 key words (e.g., “put the spoon under the step”).

• 4 years: 4 key words (e.g., “put the red spoon under the step”).

 

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

• 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. Shares interest. Waves bye-bye. Claps hands.

• 18 months: Imitates activities, such as waving, clapping or 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). Engages in pretend or imaginative play (e.g., feeding a teddy).

• 3 years: They will seek out other children and play with them. Dry by day. Bowel control.

• 4 years: Has a best friend. Dry by night. Dresses self. Imaginative play.

 

There are certain red flags for things that would suggest there is a development problem:

• Lost developmental milestones

• Not holding an object by 6 months

• Not sitting unsupported by 9 months

• Not standing independently by 12–15 months

• Not walking by 15 months in girls or 18 months in boys

• Not running by 2 years

• No words by 18 months

  • No interest in others by 12 months

Possible underlying causes of global development delay include:

• Idiopathic

• Antenatal conditions (e.g., fetal alcohol syndrome and congenital rubella syndrome)

• Perinatal conditions (e.g., prematurity and hypoxic-ischaemic encephalopathy)

• Postnatal conditions (e.g., meningitis and traumatic brain injuries)

• Genetic conditions (e.g., Down’s syndrome and fragile X syndrome)

• Metabolic disorders (e.g., phenylketonuria)

 

What is global development delay

• when a child under 5 years displays delayed development in two or more domains

 

Key red flags for gross motor delay include:

• Not sitting unsupported by 9 months

• Not walking by 15 months in girls or 18 months in boys

• Abnormal muscle tone (hypertonia with central pathology, hypotonia with central or peripheral pathology)

• Abnormal reflexes (brisk with central pathology, reduced or absent with peripheral pathology)

 

Causes of a specific delay in the gross motor domain include:

• Cerebral palsy

• Ataxic disorders

• Myopathy (e.g., muscular dystrophy)

• Spina bifida

• Visual impairment affecting balance and co-ordination

 

Key red flags for fine motor delay include:

• Not grasping objects by 6 months

• Not transferring objects between hands by 9 months

• Clear hand preference before 18 months

 

Causes of a specific delay in the fine motor domain include:

• Dyspraxia

• Cerebral palsy

• Muscular dystrophy

• Visual impairment affecting hand-eye coordination

• Congenital ataxia (rare)

 

Key red flags for speech and language delay include:

• Not babbling by 12 months

• No words by 16 months

• Not combining two-words by 24 months

• Not responding to name or simple commands by 12 months

 

 

Causes of a specific delay in the speech and language domain include:

• Environmental factors (e.g., exposure to multiple languages or siblings that do all the talking)

• Hearing impairment

• Learning disability

• Autism

• Cerebral palsy

 

 

Key red flags for personal and social delay include:

• Not smiling by 8 weeks

• No interest in people by 6-9 months

• Not pointing or sharing interest by 18 months

• No pretend or imaginative play by 3 years

 

Causes of a specific delay in the personal and social domain include:

• Autistic spectrum disorder

• Learning disability

• Visual or hearing impairment

  • Emotional trauma, attachment disorder or neglect

The Department of Health and Social Care (DHSC) (2001) defines learning disability as:

• “a significantly reduced ability to understand new or complex information, to learn new skills (impaired intelligence), with a reduced ability to cope independently (impaired social functioning), which started before adulthood.”

 

Learning difficulty does not necessarily involve impaired intelligence, but causes specific challenges in certain types of learning:

• Dyslexia involves difficulty in reading, writing and spelling

• Dysgraphia involves difficulty in writing

• Auditory processing disorder involves difficulty in processing auditory information

• Non-verbal learning disability involves difficulty in processing non-verbal information (e.g., body language)

  • Dyspraxia (or developmental co-ordination disorder) involves difficulty in physical co-ordination

The severity of the learning disability is based on the IQ (intelligence quotient):

• 55 – 70: Mild learning disability

• 40 – 55: Moderate learning disability

• 25 – 40: Severe learning disability

  • Under 25: Profound learning disability

Certain conditions are associated with learning disability:

• Antenatal conditions (e.g., fetal alcohol syndrome and congenital rubella syndrome)

• Perinatal conditions (e.g., prematurity and hypoxic-ischaemic encephalopathy)

• Postnatal conditions (e.g., meningitis and traumatic brain injuries)

• Genetic conditions (e.g., Down’s syndrome and fragile X syndrome)

• Metabolic disorders (e.g., phenylketonuria)

• Autistic spectrum disorder

• Epilepsy

 

Risk factors for learning disabilities

• Family history

• Abuse

• Neglect

• Psychological trauma

• Toxins

 

Managing learning disability involves a multidisciplinary approach to support the child and family, including:

• Schools

• Health visitors

• Social workers

• Educational psychologists

• Paediatricians, GPs and nurses

• Occupational therapists

• Speech and language therapists

 

Specific terms and definitions are used in managing the educational needs of children with learning difficulties:

• Early intervention services aim to identify learning difficulties early and provide additional support

• Special Educational Needs (SEN) means a child requires additional or different support with learning

• Special Educational Needs Coordinators (SENCOs) are teachers responsible for coordinating support in school

• Individual Education Plan (IEP) or Personalised Learning Plan (PLP) details the individual’s needs and plan

• Education, Health and Care (EHC) plans detail individual needs across broader domains

 

 

To have capacity, a patient must demonstrate the ability to:

• Understand the decision that needs to be made

• Retain the information long enough to make the decision

• Weigh up the options and the implications of choosing each option

  • Communicate their decision

What is Addison's disease

Addison’s disease is the traditional term for primary adrenal insufficiency. It involves a defective adrenal cortex, which manifests as an impairment in the synthesis and release of glucocorticoids and mineralocorticoids.

 

Causes of Addison's disease

• Autoimmunity

• Infections like tuberculosis and CMV

• Vascular issues like an adrenal haemorrhage or VTE

• Short-term steroid use

• Trauma

• Adrenal tumours

• Surgery, adrenalectomy

• Congenital Adrenal Hyperplasia (CAH): the most common inherited form of PAI

• Other drugs affecting adrenal steroid synthesis such as ketoconazole, rifampicin, phenytoin

 

 

The adrenal glands produce two types of steroid hormones:

• Glucocorticoid (cortisol)

  • Mineralocorticoid (aldosterone)

Glucocorticoids (e.g., cortisol) help the body cope with stress. Cortisol has several actions within the body:

• Increases alertness

• Inhibits the immune system and reduces inflammation

• Inhibits bone formation

• Raises blood glucose

• Increases metabolism

• Supports cardiovascular function (heart rate, blood pressure and cardiac output)

 

Mineralocorticoids (e.g., aldosterone) help regulate the balance of electrolytes and blood pressure. They act on the nephrons in the kidneys to:

• Increase sodium reabsorption from the distal tubule

• Increase potassium secretion from the distal tubule

  • Increase hydrogen secretion from the collecting ducts