Developmental delay, behavioural disorders and learning difficulty Flashcards
1
Q
At around two months you can expect a child to be able to do the following
A
Physical
- Whilst laying on tummy, baby turns their head to the side
- Whilst laying on back, baby waves arms, legs and wiggles/squirms
- Briefly holds a toy when you place it in their hand
- Follows an object or person with both eyes
Communication
- Be able to make cooing sounds such as ‘aaah’, ‘gah’, ‘ooo’
- Baby smiles when spoken to
- When you talk to your baby, they make sounds back to you
- Cries when wet, hungry tired or wants to be held
- Eye to eye contact is deliberately maintained
- Turns to voices
2
Q
At around four months you can expect a child to be able to do the following
A
Physical
- When laying on tummy, baby will hold their head straight up and look around
- When in a sitting position, baby will hold their head steady, without support
- Whilst laying on back, baby will bring hands together over the chest, touching their fingers
- When in a sitting position, baby should start to reach for a toy close by
- When baby has a toy in their hand, they will hold it whilst looking at it, waving it about and attempting to chew it
Communication
- When in front of a mirror, baby should smile or ‘coo’ at themselves
- Baby will be able to chuckle softly and/or laugh
- After you have been out of sight, baby will smile or get excited when they see you
- Baby will make sounds when looking at toys or people
- Baby will be able to make high pitched squeals
3
Q
At around six months you can expect a child to be able to do the following:
A
Physical
- Baby will roll from their back to their tummy
- Baby will be able to sit up with support
- Baby will be able to get into a crawling position
- Be able to grasp a toy using both hands at once
- Reach a small object using their finger and pick it up using their thumb and all fingers
- Be able to pick up a small toy with one hand and pass it to the other
- Plays with feet when laying on back
Communication
- Holds hands up to be lifted
- Makes sounds like ‘Da’, ‘ga’, ‘ka’
- Squeals and laughs
- Likes to look at themselves in a mirror
4
Q
At around nine months you can expect a child to be able to do the following:
A
Physical
- Sits without support
- Can get into sitting position from lying down
- Will pull to stand and take weight on feet
- May crawl
- Rolls over both ways
Communication
- Copy simple sounds
- Babbles making different sounds e.g. mamma
- Baby will when asked ‘Give it to me’ or ‘Put it back’
- Recognises family members
- Clingy to familiar adults
- Has a favourite toy
5
Q
At around twelve months you can expect a child to be able to do the following:
A
Physical
- Sits well and gets into sitting position alone
- Pulls to stand from sitting position and can sit down again
- Walks around furniture
- May crawl or bottom shuffle
- May stand alone
- Help turn the pages of a book
- Throw a small ball
- Be able to pick up a piece of string with first finger and thumb
Communication
- Points at objects
- Responds to own name
- When dressing, will hold out arm or foot to help
- Makes more meaningful sounds e.g. Mamma, Dadda
6
Q
At around eighteen months you can expect a child to be able to do the following:
A
Physical
- Walks well
- Can walk upstairs holding an adults hand
- Can stack blocks on top of each other
- Turn the page of a book
- Put a small in their mouth, right side up
Communication
- Says several single words
- Recognises and points to parts of the body
- Enjoys nursery rhymes and tries to join in
- Obeys simple commands, such as ‘bring me your shoes’
7
Q
At around two years old you can expect a child to be able to do the following:
A
Physical
- Tries to kick a ball
- Runs well
- Jumps with both feet leaving the floor at the same time
- Holds pencil by using thumb and first two fingers
- Can string small items such as beads, pasta onto a string
- Drinks from a cup with no lid
Communication
- Likes to pretend and role play
- Can name well known objects
- Correctly uses words like ‘I’, ‘Mine’ and ‘You’
- Will correctly put two – three words together
8
Q
At around three years old you can expect a child to be able to do the following:
A
Physical
- Will walk on tip toes when shown
- Walks upstairs with alternate feet, still puts both feet on each step when coming down
- Catches a large ball
- Pedals a tricycle
- Climbs walls
Communication
- Can say own name, age and sex
- Can say numbers up to 10
- Pretend play is more vivid
- Plays with other children and takes turns
- Understands and uses ‘You’, ‘Me’, ‘I’
9
Q
At around four years old you can expect a child to be able to do the following
A
Physical
- Walks up and down stairs using alternate feet
- Good on a tricycle
- Hops and stands on one foot
- Can throw, catch and kick well
- Draws a person with recognisable body parts eg head, arms and legs
- Uses a fork and spoon well
Communication
- Knows own first and last name
- Can sing several nursery rhymes
- Likes to listen to longer stories and will tell own stories
- Continues to ask lots of questions
- Takes turns and shares
- Shows sympathy to friends when hurt or upset
10
Q
At around five years old you can expect a child to be able to do the following
A
Physical
- Can balance and stand on one foot for about 10 seconds
- Hops
- Dances
- Swings and climbs
- Slides down a slide
- Can now get dressed and undressed by self
Communication
- Speech is very clear
- Knows name, address and age
- Likes listening and telling stories
- May have best friend
- Sense of humour increasing
- Uses more imagination
- Shows more independence
11
Q
Four main domains of development
A
- Gross motor
- Vision and fine motor
- Hearing, speech and language
- Social, emotional and behavioural
12
Q
Importance of assessing development
A
- To help children achieve maximum potential
- Provide treatment promptly
- Act as entry point for the investigation, care and management of the child with special needs
13
Q
When do developmental reviews take place?
A
- Newborn examination
- 6-8weeks
- 12 months
- 14-30 months
- 3-3.5 yrs
- 4-5 years - school entry hearing, vision, growth and health needs
*Every baby gets a red book with space to record development of the child
14
Q
Normal age of walking
A
- Varies from around 11 months - 18 months
- Anything up to 18 months is normal
- Median age is 12 months
- Limit age is 18 months - 2 standard deviations from the mean
15
Q
What are the limit ages for gross motor skills?
A
- Head control: 4 months
- Sits unsupported: 9 months
- Standing with support: 12 months
- Walking independently: 18 months
16
Q
Warning signs: social, emotional and behavioural skills
A
- No smiling at 8-10 weeks
- Little interest in people and toys at 6m
- Persistent mouthing at 12m
- No symbolic play 2-2.5y
- Not playing with peers at 3.5y
17
Q
How to observe and assess a child’s development:
A
- Observe: start with typically developing children, observe play
- History: ask parents about milestones, ask about baby’s gestation and current age, do the parents have any concerns?
- Examination: use available toys to test 4 domains of development: gross motor, fine motor and vision, language and hearing and social
- Interpretation: consider the 4 domains of development, is the child achieving expected developmental progress in all areas or is development delayed?
18
Q
Examples of standardised assessment tools for childhood development
A
-
Schedule of growing skills
- Provides a rapid and reliable measure of child development through the assessment of nine key areas: Passive Posture, Active Posture, Locomotor, Manipulative, Visual, Hearing and Language, Speech and Language, Interactive Social and Self-Care Socia
-
Denver charts
- Assesses child’s development relevant to age - draw a ling up from their age, indictaes what child should be able to do
- Griffiths scales
19
Q
During the first year of life, which developmental domain shows the most dramatic changes?
A
Gross motor
Severe or moderate global delay may be first noticed because the child is slow to sit, roll, crawl and walk but the sequence of these events will occur in the normal order
20
Q
List the endocrine glands
A
- Hypothalamus, pituitary, thyroid, pineal, parathyroid, adrenal, pancreas and gonads
- Endocrine disorders can arise as a consequence of excessive or insufficient levels of a hormone
21
Q
Definition of short stature
A
- Defined as a height which is more than 2 standard deviations below the mean compared with others of the same age and sex i.e. blow 3rd centile on growth chart
- Or a height that is >3centiles below the mid parental height centile
- Often referrals are made but there is a pathological cause in a minority of cases
22
Q
Causes of short stature
A
- Most often the cause if familial short stature or delay in growth and puberty but can be a presenting feature of an endocrine disease, any chronic disease or genetic condition that affects growth
Causes of short stature based on age group
- Babies/ young children: IUGR, nutritional deficiency or poor intake, chronic illness e.g. significant CHD, neglect/ abuse
-
Adolescents
- Constitutional delay of growth and puberty
-
All ages
- Familial, chronic illness, coeliac, hypothyroidism, growth hormone deficiency/ hypopituitarism, chromosomal e.g. Turner’s, skeletal dysplasia e.g. achondroplasia, iatrogenic e.g. steroid use
23
Q
Clinical features of short stature
A
- Familial short stature – children are otherwise healthy
- Those with constitutional delay are also healthy – growth chart will show reduced growth velocity between 6 months – 3yrs which may normalise during childhood but growth velocity is then slowed again during early adolescence
- Pathological short stature – clinical findings depend on cause
24
Q
Investigations and diagnosis of short stature
A
-
Diagnosis
- Familial cause is diagnosed clinically based on hx and examination and growth measurements and plotting of mid-parental height
- Constitutional delay is also clinical diagnosis
-
Investigations
- Not indicated in a healthy child if the hx suggests a familial cause
- Important to measure parents for yourselves – men often over report
- Imaging
- X-ray of left hand to ascertain bone age
- Bloods
- Abnormal FBC, renal function tests or inflammatory markers suggests chronic disease
- Screen for coeliac and TFTs should be done
- Karyotyping for Turner’s
- Growth hormone stimulation test to rule out growth hormone deficiency
- Random GH measurement is not useful because release is pulsatile
25
Management of short stature
* Reassurance if no pathological cause
* Treatment for pathological cause depends on cause
* Medication
* Synthetic GH given daily via subcut injection for those with GH deficiency – may also be useful for those with Turner's, Prader-Willi and chronic renal disease
* **Prognosis**
* Those with constitutional delay achieve normal adult height
* Many with chronic disease or endocrine disease have a catch-up growth period where growth accelerates
* Some always remain short
26
Define tall stature
* Defined as height 2 standard deviations above the mean for their age and sex I.e. \>97th centile on growth chart or \>3cm taller than the mid-parental height centile
* Less common than short stature due to lower incidence and society's perception that tall stature is not a problem
27
Cause of tall stature
* Most common is familial tall stature
* Genetic conditions e.g. Kleinfelter's or Marfan's
* Endocrine conditions e.g. growth hormone excess or hyperthyroidism
* Precocious puberty
28
Clinical features of tall stature
* Healthy if familial, normal growth velocity
* Young children who are obese are usually tall for their age – poorly understood
* Pathological cause may show increased growth velocity and associated signs and symptoms of underlying disease
29
Investigations and diagnosis of tall stature
* **Diagnosis**
* BMI is calculated
* No investigations if child is clinically well and has normal growth velocity and pubertal growth within normal range
* **Investigations**
* Guided by hx
* Bone age is useful in most cases, choice of blood depends of perceived underlying cause
* Imaging
* X-ray of hand to ascertain bone age
* MRI brain if pituitary adenoma suspected
* Bloods
* Karyotyping rules out Kleinfelter's
* Specific genetic testing e.g. for Marfan's
* TFTs
30
Management of tall stature
* Reassure if no underlying cause
* If causing distress, mainly in girls, early induction of puberty may be considered to limit final height by causing premature physis fusion
31
Definition of delayed puberty
* Lack of any breast development by the age of 13 in girls and a testicular volume of \<4ml in boys by 14yrs
* Affects 3% children
32
Causes of delayed puberty
* Most commonly constitutional delay
* **Pathological causes are either central or peripheral**
* **Central: affect pituitary or hypothalamus**
* **Peripheral: affect gonads**
* Pathological cause if more common in girls
33
Central causes of delayed puberty
Disorders affecting the pituitary or hypothalamus
Secondary hypogonadism:
- Impaired gonadotrophin secretion (LH/ FSH)
- Pituitary tumours
- Congenital gonadotrophin-releasing hormone deficiency
34
Peripheral causes of delayed puberty
Problem with the gonads
Gonadal dysgenesis
Boys: Klienfelter's
Girls: Tuner's
Bilateral testicular damage: mumps/ testicular torsion
35
Clinical features of delayed puberty
* If constitutional child may also have short stature but are otherwise healthy
* Important to ask about any previous conditions that may have caused delay e.g. testicular torsion – results in hypogonadism
36
What investigations are available to investigate delayed puberty?
* **Bloods:**
* LH, FSH, testosterone (boys) oestradiol (girls): primary hypogonadism occurs if sex hormones are low, with normal or high LH and FSH which indicates that there is a problem with the gonads because they are not responding to the high levels of FSH and LH. Secondary hypogonadism delay is diagnosed if there are low levels of FSH and LH which would suggest there is a problem with the hypothalamus or pituitary
* TFTs: hypothyroidism
* Inflammatory markers: chronic inflammatory illness which can affect puberty
* Karyotype: Turner's/ Kleinfelter's
* **Imaging:**
* Pelvic US: absence of ovaries/ uterus
* Brain MRI: pituitary abnormality
37
Management of delayed puberty
* If delay is causing distress puberty can be induced with a short course of oestrogen or testosterone
* If delay is due to underlying chronic disease, child will often enter puberty once cause is treated
* Those with primary hypogonadism require induction of puberty with use of exogenous hormones followed by HRT
38
What is precocious puberty?
* Signs of puberty before 8yrs in girls and 9yrs in boys
* Note – can be early onset without being pathological e.g. African Caribbean girls start puberty at a younger age than white girls on average
* Overall incidence of 1 in 5000 but more common in girls
39
Causes of precocious puberty
Central or peripheral causes
* Only **central causes** are considered true precocious puberty - caused by normal release of GnRH in response to early activation of HPA axis
* familial, hypthyroidism, obseity (girls), idiopathic
* brain tumours, after brain injury or radiotherapy, hydrocephalus
* **Peripheral** = precocious pseudopuberty - usually pathological in both sexes and occurs due to excess sex hormone released by gonads
* AKA gonadotrophin-independent: ovarian/ testicular/ adrenal tumour
* Congenital adrenal hyperplasia
*
40
Diagnosing preocious puberty
* **Bloods**
* Used to establish whether child has pubertal levels of sex hormones and establish whether origin is central or peripheral
* Boys: measurement of early morning testosterone is a marker of whether boy has entered puberty
* Girls: measurement of oestradiol is less useful as levels fluctuate
* Very high levels of oestradiol or testosterone with low FSH and LH levels suggests peripheral precocious puberty
* Serum LH at pubertal level in central precocious puberty – most useful initial test
GnRH stimulation test is used to differentiate between peripheral and central – will cause increased FSH and LH in central but no change in peripheral
* If congenital adrenal hyperplasia suspected measure 17-hydroxyprogesterone
* **Imaging**
* Precocious puberty will show bone radiograph of advanced age
* MRI for all under 6yrs as a pathological cause is more likely in younger children
* Pelvic US to see if uterus size is pubertal and to exclude ovarian pathology
41
Management of precocious puberty
* Children with idiopathic precocious puberty - decision to treat is situational, can be halted with gonadotrophin agonists
* Pathological cause – treat underlying cause
* Gonadotrophin agonists do not work in peripheral precocious puberty
* The main complication of precocious puberty is diminished final adult height as early pubertal growth spurt causes premature closure of physis = less time to grow
42
Why do adrenal disorders occur?
Central cause: problem with hypothalamus or pituitary - affects ACTH release
Primary cause: problem with adrenal gland
43
What is congenital adrenal hyperplasia?
Autosomal recessive disorder
Deficiency of an enzyme in the corticosteroid synthesis pathway
95% due to 21-hydroxylase deficiency \>\> less cortisol is produced and more testosterone is produced
* Cortisol deficiency leads to further ACTH secretion which causes excessive testosterone production because ACTH causes adrenal cortex to grow and thus produce more testosterone
* Aldosterone deficiency occurs in 75%
44
Types of congenital adrenal hyperplasia
* Classical forms appear in infancy whereas non-classical forms appear later
* Classic = salt wasting (75%) or non-salt wasting/ simple virilising (25%)
* Non-classic = varying degrees of androgen excess
45
Clinical features of adrenal hyperplasia
* **Females:** presents at birth because excess testosterone = virilisation and ambiguous genitals
* **Males:** genitals appear normal at birth
* Baby will have salt wasting due to low levels of aldosterone which is needed for salt reabsorption in kidney
* Hyponatremia
* Hypoglycaemia
* Hyperkalaemia
* Acidosis
* Dehydration
* Collapse
* Most common presentation in boys is salt wasting, those who do not have the salt wasting form (25%) may present with virilisation/ signs of puberty by 2-4 years
46
Diagnosis of congenital adrenal hyperplasia
* If child has ambiguous genitals investigate asap to identify sex to be ascertained
* Karyotype: establish whether genetically male or female
* Blood glucose + electrolytes: hypoglycaemia and salt wasting – think congenital adrenal hyperplasia
* Pelvis USS: sexual organs?
* Classic adrenal hyperplasia diagnosed when levels of 17-hydroxyprogesterone levels are raised as less is converted due to lack of 21-hydroxylase
* Blood testosterone will be increased in congenital adrenal hyperplasia
47
What is Addison's?
* Primary adrenal insufficiency - not caused by adrenal hyperplasia
* Rare in childhood – 35 diagnosed/ year and usually due to autoimmune destruction of adrenal gland
48
Clinical features of Addison's
* Lethargy, weight loss, loss of appetite, N&V, skin pigmentation
* Pigmentation occurs due to overproduction of ACTH as los cortisol levels don't switch off ACTH production – ACTH stimulates melanocytes which produce pigment in skin
* Diagnosis often delayed as symptoms vague, some are diagnosed with anorexia
* Crisis presents with collapse as a result of severe dehydration, HoTN, shock and hypoglycaemia
* Precipitated by stress e.g. infection, trauma or surgery and can be initial presentation of disease
49
How is Addison's diagnosed?
* Bloods show hypoglycaemia, hyponatremia and hyperkalaemia
* Morning cortisol is low
* High ACTH suggests cause is in the adrenal gland rather than central cause
* Synacthen stimulation differentiates between central and peripheral cause
* Central: synacthen will lead to cortisol rise
* Peripheral: synacthen will not lead to cortisol rise because problem is in adrenal gland
* USS or CT of adrenal gland may show haemorrhage, calcification or infiltration – rare in children
50
Management of Addison's disease?
* Lifelong hydrocortisone + fludrocortisone
* Increased steroid when ill
* Crisis = medical emergency, give IV dextrose, saline and hydrocortisone
* Children carry steroid card with dose on and advise to never stop steroid suddenly and double dose when ill
51
Cushing's syndrome
Cushing's disease = excess glucocorticoid due to pituitary adenoma
* Caused by excess of circulating glucocorticoids either endogenous or exogenous
* Rare in children, usually ironic following prolonged corticosteroid treatment
* Endogenous Cushing's syndrome can be ACTH dependent or independent and the most common cause in children over the age of 7 is an ACTH producing pituitary tumour
* The most common ACTH independent cause is an adrenal tumour and this is the most frequent cause of Cushing's syndrome in children under the age of 4
52
What are the clinical features of Cushing's syndrome?
* Poor linear growth, facial and truncal obesity, purple striae, hirsutism, delayed sexual development and easy bruising
53
What is the most reliable screening test for Cushing's syndrome?
* Measurement of free cortisol in urine samples collected over 24 hours – concentration of free cortisol is increased if Cushing's is present
* Random cortisol measurement is not useful because there are fluctuations in the levels throughout the day
* Normal circadian rhythm for blood cortisol is low at midnight and high first thing in the morning – this pattern is lost in Cushing's and serum levels are high at midnight and in the morning therefore measurement of early-morning ACTH will usually distinguish between ACTH dependent and independent causes
* MRI scan to look for pituitary tremors or ultrasound for adrenal tumours
54
Management of Cushing's
* Gradual withdrawal of corticosteroid with the aim of discontinuation if caused by exogenous steroids, steroid sparing agents are considered for example cyclophosphamide in nephrotic syndrome or methotrexate in juvenile idiopathic arthritis
* Why do we not stop steroid medication suddenly? May cause adrenal crisis as hypothalamic pituitary adrenal axis is suppressed – gradual reduction allows HPA axis to recover this function
* If an adenoma is found it can be removed by transsphenoidal surgical excision
* Adrenal tumours are also removed surgically
55
What is hypopituitarism?
* Partial or complete insufficiency of multiple pituitary hormones due to disease or damage including genetic conditions, congenital anomalies, perinatal asphyxia, tumours, infiltration or secondary to radiation treatment
* Multiple pituitary home and deficiency is rare in children with around 30 children per year diagnosed – much more common is isolated growth hormone deficiency which affects one in 3500 children
* Clinical features depend on age of onset and hormones affected neonates may present with midline facial defects – may indicate that pituitary is absent or abnormal as it is a midline structure
* Anterior pituitary is responsible for release of growth hormone, ACTH, prolactin, LH and FSH, TSH therefore malfunction can lead to loss of growth, loss of cortical secretion and hypogonadotrophic hypogonadism
* Hypopituitarism is usually life long but hormone replacement means children can lead a normal life
56
What is diabetes insipidus?
Insipidus = without taste
Urine is low in sodium and therefore tasteless
Causes: deficiency of ADH (central dibetes insipidus) or renal tubules that do not respond to ADH (nephrogenic diabetes insipidus)
Central is more common but both are rare
57
Clinical features of diabetes insipidus
* Polyuria - \>4ml/kg/hr, polydipsia and failure to thrive
* Babies cannot get water for themselves and therefore will be irritable and lose weight, and older children the need for a drink maybe so uncontrollable that they drink from toilets
* Inability to get water causes seizures due to hypernatraemia and dehydration
58
Investigations for diabetes insipidus
* 24-hour urine collection will show polyuria, urinalysis will show inappropriate delete urine and high serum sodium
* Water deprivation test is needed to confirm the diagnosis and will also help differentiate between a central cause and a nephrogenic cause
* Patient is deprived of water for up to 8 hours with regular monitoring of urine and serum osmolality and weight
* In diabetes insipidus these tests show increased serum osmolality with inappropriately die loot urine in addition to market weight loss because of access urination
* Patient will then be given exogenous ADH and if the urine osmolality increases meaning it becomes more concentrated than the cause is central – the kidneys can respond to ADH but it is not being produced in the first place
* If the patient is given exogenous ADH and the urine osmolality does not change this means there is a nephrogenic course
59
What is primary polydipsia?
This is excessive or compulsive water drinking which is psychogenic, initial testing with a water deprivation test may suggest a central diabetes insipidus however after a period with controlled access to water the test results will normalise
60
What is hypoglycaemia?
* Occurs due to a defect in the pathway for glucose metabolism and homoeostasis – the level of blood glucose becomes insufficient to maintain cell function
* Blood glucose of less than 2.5 mmol/L in a non-diabetic child warrants further investigation
61
Causes of hypoglycaemia
* More common in neonatal period and incidence decreases with age, age is useful in guiding course. Most common cause in those aged 18 months – five years is ketotic hypoglycaemia of which the cause is unknown but means the children are unable to tolerate periods of fasting for example overnight. Affects 12 and 100,000 children under the age of five
* Ingestion of ethanol and salicylates can also lead to hypoglycaemia in children
* The most common cause of hypoglycaemia in adolescence are insulin producing pancreatic tumours although these are rare
62
Clinical features of hypoglycaemia
* Vary depending on the children's age and the cause
* Early symptoms include sweating, trainers, hunger and tachycardia
* Later symptoms occurring as a result of neuroglycopenia e.g. confusion and lethargy
* Prolonged or severe hypoglycaemia result in seizures and death
63
Diagnosis of hypoglycaemia
* Blood glucose monitors detect hypoglycaemia
* Measurement of other constituents can give clue as to cause of hypoglycaemia e.g. cortisol which will be low in adrenal insufficiency, insulin will be inappropriately high in hyperinsulinism, ketones will be inappropriately absent in the urine in hyperinsulinism
* If a patient has hypoglycaemia but has an absence of ketones meaning they have non-ketotic hypoglycaemia they suggest they have excess insulin or they have a fatty acid oxidation defect
64
Management of hypoglycaemia
* Prompt recognition is essential and treatment includes a sugary drink, or glucose gel or IV dextrose solution depending on the child's clinical condition
* Treatment of ketotic hypoglycaemia involves regular meals and a snack of complex carbohydrate a bedtime – usually resolve spontaneously by 9 years of age
* Prolonged symptoms of hypoglycaemia can lead to irreversible neurological damage leading to developmental delay, learning difficulties or seizures
65
What are the 4 stages of growth?
1. Intrauterine: dependent on genetics of mother and individual, nutrition + placenta
2. Infancy: mainly first 2-3 years of post natal life, driven by nutrition
3. Early childhood: dependent on GH
4. Puberty: combination of GH + sex hormones
66
When is foetal growth at its fastest rate?
Week 16-20
67
Most common cause of growth failure worldwide?
Malnutrition
68
What is achondroplasia?
Common form of dwarfism, autosomal dominant
Mutation on chromosome 4 that codes for fibroblast growth factor
Mutation increases the function of the growth factor:
- decreased bone ossification
inhibitied proliferation of chondrocytes
- decreased cellular hypertrophy
- decreased cartilage matrix production
- epiphyseal plates close early
69
What is pituitary dwarfism?
GH deficiency in childhood resulty in pituitary dwarfism
Can be accompanied by under secretion of other pituitary hormones
Causes: tumours, infections, pituitary infarction, trauma, vascular malformation
70
What is Laron dwarfism?
High GF, low IGF 1&2
Mutation in GF receptor - unresponsive
71
Symmetrical vs asymmetrical growth restriction
**_Symmetrical: chemical exposure, viral infection, chromosomal_**
- early insult
- affects number and size of cells
- proportional reduction in cell number and size
- decreased abdo and head circumference
**_Asymmetrical: pre-eclampsia, placental insufficiency_**
- late insult
affects cell size
- reduced fat deposition and liver size
- abdo circumference reduced more than head size
72
Maternal factors causing growth restriction
Smoking, alcohol, anaemia, medical disease, uterine abnormality
73
Foetal factors causing IUGR
Structural anomalies
Chromosomal anomalies
TORCH infection
74
Placental causes of IUGR
- Abruption
- Praevia
- Thrombosis/ infarction
- Vasculitis/ oedema
75
Screening for IUGR
Clinical: previous IUGR, fundal height
Biochemical: foetal fibronectin
USS: abdo circumference, head circumference, femur length, liquour volume, doppler of umbilical artery
76
Developmental red flags
Not fixing/ following
Regression
Abnormal tone
Toe walking
No smile
Hand preference early
Missing milestones
77
Normal weight loss and gain in a child
Week 1: lose up to 10%
Week 2: regain birth weight
5/12: weight doubled
12/12: weight trebled
78
How is development measured?
* Progress is monitored by noting the achievement of developmental milestones which marks the acquisition of skills in four domains
* Gross motor: skills of using large muscle groups which progresses from rolling to sitting
* Fine motor: skills performed by using smaller muscles e.g. drawing
* Communication and language: the use of gestures, development of speech and understanding of language
* Social: skills needed to interact with others
79
Outline the stages of gross motor development
3 months: little-no head lag when pulled to sit, good head control when on tummy, held sitting
6 months: lying on belly arms extended, lyig on back grasps feet, pulls self to sit, held sitting, rolls front to back
7-8 months: sits without support
9 months: pulls to stand, crawls
12 months: cruises, walking (50%)
13-15 months: walking
18 months: squats to pick up toy
2 years: runs, walks upstairs
3 years: rides tricycle, walks upstairs without handrail
4: hops on one leg
80
Outline the stages of fine motor development
Dependent on good vision
3 months: reaches for object, hold rattle briefly if given, visually alert to faces, fixes and follows 180 degrees
6 months: palmar grasp, pass from one hand to other, looking at everything
9 months: points with finger, early pincer
12 months: bangs toys, good pincer
81
Tower of bricks stages
15 months: tower of 2
18 months: tower of 3
2 years: tower of 6
3 years: tower of 9
82
Drawing milestones
18 months: circular scribble
2 years: copies lines
3 years: copies circle
4 years: copies cross
5 years: copies square and triangle
83
A hand preference before which time is possible abnormal?
\< 12months, concern re cerebral palsy
84
Stages of speech development
Newborn: quietens to voice and startles
3 months: quietens to voice, tuns towards sound, squeals, coos and laughs
6 months: double syllables but no words
9 months: dada, mama, understands no
12 months: knows name
12-15 months: 6 words, understands simple phrases e.g. give that to mummy
2 years: combines 2 words, knows parts of body
2.5 years: 200 words
3 years: 3-5 word sentences, what who questions, knows colours, counts to 10
4 years: why, when, how
85
Social, behavioural and emotional development stages
6 weeks: smiling
8 months: finger feeding
10 months: separation anxiety from parents, stranger danger, waves goodbye
12 months: drinks from cup with 2 hands
18 months: spoon feeding self
18-24 months: symbolic play
2 years: dry by day (variable), pulls off some clothing
2.5-3 years: parallel play, interactive play evolves, takes turns
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How can development be assessed quickly?
Denver development screen
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Common delayed development presentations
Common presentations
* **Delayed walking**
* Child not walking by 18 months should be referred, important to exclude: cerebral palsy, muscular dystrophy, global neurodevelopmental delay
* **Delayed speech**
* May be isolated but can occur due to lack of hearing
* Causes of delay: familial, runs in family but no underlying pathology, hearing impairment e.g. chronic otitis media (glue ear), environmental e.g. social deprivation, neurophysiological e.g. global developmental delay or autism
* **Global delay**
* Genetic: chromosomal abnormality, metabolic syndrome, muscular dystrophy
* Prenatal insult: teratogens, congenital infections, hypothyroidism
* Perinatal insult: complication of extreme prematurity e.g. haemorrhage, hypoxia, metabolic disorder e.g. hyperglycaemia
* Post-natal events: brain injury, CNS infection
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What is a dysmorphism?
* A dysmorphism is an abnormality in a structure, particularly the face which is present from birth
* Examples of dysmorphic features:
* **Malformations** e.g. cardiac septal defect where the affected organ has developed incorrectly
* **Deformations** which occur when normally form structures become deformed for example talipes which occurs secondary to oligohydramnios
* **Disruptions** which occur when physical factors prevent normal development and example of this would be an amniotic band which can affect limb formation or even cause amputation of a limb
* Dysmorphic features are caused by genetic disorders, exposure to dragons, environmental factors or a combination of the above
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Diagnostic approach to a child who is suspected to have a genetic disorder
* Family history including miscarriage or stillbirth and consanguinity is taken as foetuses with certain genetic disorders are more likely to spontaneously abort and biological relationships between parents increases the risk of genetic disorders
* Pregnancy events e.g. exposure to teratogens or illnesses
* Birth weight and growth of the baby
* Developmental milestones so far
* Physical examination includes checking for dysmorphic features as some features are distinctive of particular conditions. Many abnormalities found on physical examination or non-specific and occur in various syndromes
* Genetic testing will confirm many diagnoses however there are many sequences and syndromes in which the responsible gene is not yet identified therefore clinical findings forms the basis of the diagnosis
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What % of spontaneous abortions occur due to chromosomal abnormalities?
50%
* Incidence of chromosomal abnormalities in life born babies is one in 200
* Abnormalities can affect autosomes or sex chromosomes, sex chromosome abnormalities tend to have less severe phenotype and the babies are more likely to be live born
* Chromosomal abnormalities are broadly considered numerical or structural with the most common numerical abnormalities being trisomy meaning an extra chromosome or monosomy meaning a missing chromosome. The most common structural anomalies or deletions, duplications and in versions of a part of the chromosome and translocations when a whole chromosome or segment of the chromosome inappropriately joins to another chromosome
* The most common chromosomal abnormalities are trisomies and sex chromosome abnormalities which occur because of errors during cell division and gametogenesis
* When a child is found to have a chromosomal abnormality chromosome studies are offered to the parents
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Which is the most common trisomy?
Downs syndrome
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What are the most common sex chromosome abnormalities?
Turner's syndrome and girls and Klinefelter's syndrome in boys
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What is trisomy 18?
**A.k.a. _Edwards syndrome**_ _**E_****_ighteen = Edwards_**
This occurs in one in 10,000 live births
* Physical characteristics: intrauterine growth restriction, micro carefully, facial dysmorphisms, rocker bottom feet, clenched fist with the index and fifth fingers overriding the third and fourth, thumb aplasia
* Associated features: cardiac anomalies, renal anomalies, gastro anomalies and severe learning disabilities
* 95% of babies die within one year
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What is trisomy 13?
A.k.a. Patau's syndrome
* Physical characteristics: intrauterine growth restriction, microcephaly, holoprosencephaly (failure of division of forebrain into 2 hemispheres), facial dysmorphism including cleft lip and palate, rocker bottom feet – this is caused by a congenital vertical talus, post axial (ulnar) polydactyly
* Associated features: cardiac and renal anomalies, on follow seal, areas of missing skin and severe developmental and learning difficulties
* Prognosis: 50% of babies die within one week and 90% die within one year
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Down's syndrome a.k.a. trisomy 21 epidemiology
Characterised by typical facial dysmorphism, hypotonia and delayed development – occurs due to an extra copy of chromosome 21 meaning affected individuals have three copies of chromosome 21 rather than the normal two
Incidence varies worldwide and increases with maternal age
* Incidence of down syndrome rises from one in 2000 live births at the age of 22 one and 100 live births at the age of 40
* Overall Down's syndrome is still common in younger mother is because more babies in total are born to younger mothers
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Clinical features of down syndrome
Downs is associated with typical facial and body features but not all features are present in all affected individuals
* Facial features: prominent epicanthic folds, flat nasal bridge and a large tongue, flat up support
* Other physical features: single palmar crease and a sandal gap which is an increase space between the big toe and the other toes
* Babies are hypertonic and usually slow to feed, growth and developmental milestones are delayed, most have a mild to moderate learning difficulty
* Higher incidence of behavioural disorders such as ADHD and autism
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Conditions associated with downs syndrome
* Congenital heart disease most commonly ventriculoseptal or atrioventricular septum defect
* Duodenal atresia and Hirschsprung's disease
* Autoimmune disease such as diabetes, coeliac, hypothyroidism
* Acute lymphoblastic leukaemia
* Congenital cataracts and long sightedness
* Otitis media with a fusion
* Atlantoaxial and atlantooccipital instability – meaning children are advised not to perform forward roles and care needs to be taken supporting the neck of a baby with Down's syndrome
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Diagnosis of Down's syndrome
* Diagnosed antenatally or soon after birth when the typical phenotypic features have been noted
* Antenatal screening
* Screening is offered during the first trimester of pregnancy – see obstetric notes
* Postnatal diagnosis
* Clinical suspicion of Down's syndrome at birth is confirmed by blood karyotype or quantitated fluorescent PCR. The karyotype will show three copies of chromosome 21
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Management of Down's syndrome
* Aims to manage any associated conditions and to enable children to achieve their full potential at school and live an independent adult life. Following diagnosis and echocardiogram should be performed to identify any congenital heart disease and the child should have regular hearing and vision test along with screening for autoimmune conditions associated with Down's syndrome
**Prognosis**
* Depends on the severity of associated conditions such as congenital heart disease or acute lymphoblastic leukaemia
* Most children lead happy and fulfilling lives and can attend mainstream schools and grow up to live fairly independently
* More than 50% of people with Down's syndrome developed Alzheimer's disease in their 50s and therefore life expectancy is reduced
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Turner's syndrome
* Affects girls and is characterised by short stature and primary ovarian failure due to gonadal dysgenesis where the ovaries are replaced by streaks of fibrous tissue
* Most common sex chromosome abnormality affecting 1 in 2000 life female births
* Chromosome arises because and X-chromosome is missing giving a 45XO karyotype
* Chromosomal mosaicism is present in 50% of cases meaning there are two cell lines one which is normal and one which is abnormal meaning half the cells are XO and half the cells are XX
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Clinical features of Turner's syndrome
* Presentation usually follows parental concern regarding short stature or delayed puberty
* Turner's may also be diagnose soon after birth suggested by oedema of the feet, low hairline or coarctation of the aorta
* Phenotypic features are variable between patients
* Associated conditions: cardiac abnormalities mainly aortic valve disease or coarctation of the aorta, renal abnormalities such as a horseshoe kidney, otitis media and hearing loss
* Increased risk of mild learning difficulties and high risk of autoimmune conditions such as hypothyroidism coeliac disease and IBD
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Diagnosis of Turner's syndrome
* Blood karyotype will show the absence of one X chromosome
* Abdominal ultrasound will show street gonads and a small uterus along with renal anomalies
* Echocardiogram will be used to detect associated congenital heart diseases
* Biochemical blood test will indicate **hypergonadotropic hypogonadism (primary hypogonadism)** which is caused by the failure of the malformed ovaries to respond to the pituitary hormones
* High FSH and LH but low oestrogen - the ovaries are not responding to pituitary hormones
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Management of Turner's
* Managed by endocrinologist and requires regular monitoring of growth and screening for complications
* Growth hormone treatment during childhood helps child reach an adult height
* Most girls will require psychical oestrogen therapy to achieve puberty and healthy uterine growth, oestrogen is also extremely important for the maintenance of a normal bone density
**Prognosis** depends on associated cardiac anomalies, females with Turner syndrome are at an increased risk of death from aortic dissection. There is also an increased risk of hypertension and cardiovascular disease in adulthood
* The majority of girls with Turner's syndrome are infertile but pregnancy is possible using IVF and donor eggs
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Noonan's syndrome
* A genetic disorder that prevents normal development in various parts of the body
* Affects an equal number of females as males and is a single gene defect
* Autosomal dominant but arises from a spontaneous mutation in up to 50% of cases
* Affects one in 1500 live births
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Clinical features of Noonan syndrome
* Facial features become more apparent in early childhood and include hypertelorism (Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism), down slanting eyes, low set ears and a short, webbed neck
* Short stature and either pectus carinatum or pectus excavatum
* A large proportion have cardiac anomalies mainly pulmonary stenosis and 20–30% developed cardiomyopathy
* 10% have developmental delay and puberty may be delayed. Some males may be infertile but females have normal fertility
* Patients tend to bruise or bleed easily because of thrombocytopenia, platelet dysfunction and coagulation factor abnormalities most commonly factor nine deficiency
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Diagnosis of Noonan syndrome
* Noonan syndrome is considered in any child with pulmonary stenosis or short stature and is confirmed genetically by the presence of any of the known mutations associated with the disorder
* There are some unidentified gene defects that lead to Noonan's so the absence of a known mutation does not exclude the diagnosis and diagnosis will often be based on clinical features
* Once diagnosis is made assessment for stated conditions include echocardiogram, vision and hearing assessment
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Management of Noonan syndrome
Management include surveillance and treatment of complications, growth hormone therapy is given to those with severe growth failure
Prognosis depends on associated problems especially any cardiac anomalies which can be life-threatening however most individuals lead normal lives
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Marfan's syndrome
* See MSK notes
* Affects the FBN1 gene which encodes for fibrillin - an extracellular matrix protein required for healthy functioning of connective tissue
* Affects 1 in 5000 people, 25% have spontaneous mutations
**Clinical features**
* Easily recognised clinically by a patients tall stature and wide arm spam but phenotype is variable
* Aortic route abnormalities – dilatation, lens dislocation, skeletal abnormalities
**Diagnosis**
* Over 1000 febrile and gene mutations have been identified and diagnosis is made by a combination of family history and presence of one of the FBN1 mutations in addition to clinical criteria based on the Ghent classification
* If no family history identified then aortic dilatation plus lens dislocation or genetic mutation is diagnostic, diagnosis can also be made in presence of aortic dilatation and other clinical features
* A family history of present diagnosis can be made in presence of lens dislocation or aortic dilatation alone
**Management of Marfan's syndrome**
* No serious complication is aortic route dilatation with risk of aortic dissection therefore monitoring of the aortic route width is essential
* Beta-blockers used to control blood pressure with the aim to prevent progression of chaotic dilatation and risk rupture, prophylactic surgery may be required
* 50% of patients will have ectopia lentis so regular eye screening is required
* Spontaneous pneumothorax and recurrent hernia is also occur
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What are imprinted gene disorders?
* These occur when an inherited copy of any gene is silenced by genetic imprinting which is a process where a methyl group is added to DNA leading to gene in activation
* Errors in imprinting result in imprinted gene disorders
* Examples of such disorders are Prader-Willi syndrome and which paternal genes are missing or there are two sets of maternal copies
* Angelman's syndrome in which a maternal gene is missing or defective all there are two paternal copies of the gene
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Prader Willi syndrome
* Characterised by hypotonia obesity and hypogonadism
* Occurs when there is a loss of the paternal jeans in a small area of the long arm of chromosome 15, the paternal gene is in active because of a microdeletion of a specific area
* Alternatively there is no parental chromosome 15 and both copies of the chromosome will have come from the mother
* This condition affects one in 15,000 children
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Clinical features of Prader Willi
* Presents in infancy with hypotonia, poor feeding and slow growth and between the ages of 1–6 children develop an excessive appetite and become progressively obese
* Short stature, hypogonadism, facial dysmorphisms, learning difficulties, difficult behaviour and sleep disorders
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Diagnosis of Prader Willi
* An initial clinical features checklist is used to decide who to carry out genetic testing in and the number of clinical features required increases with age
* Fluorescent in situ hybridisation and PCR are used to identify a deletion on chromosome 15 and uniparental disomy 15 respectively
* Uniparental disomy can occur as a random event during the formation of the zygote or may happen in early foetal development
* Occurs when a person receives two copies of a chromosome or part of a chromosome from one parent and no copies from the other parent – in Prader-Willi the child has not received a gene from chromosome 15 from their father
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Management of Prader Willi
* Growth hormone treatment is used to improve body composition and bone density as well as improving linear growth
* Restricted access to food and encouragement to exercise is essential to avoid excessive weight gain
* Support with schooling and behavioural difficulties
* What is positive behavioural support?
* Evidence-based approach used in adults with learning disabilities and challenging behaviour, information collected to understand the behaviour which is then used to create a positive behaviour support plan so that the patient can learn better ways of having their needs met. May include teaching the patient new skills, more positive ways to communicate and coping strategies, support will include the family of the patient so they can learn how to best provide support e.g. avoiding distressing situations for the patient
* Life expectancy may be reduced due to complications associated with obesity or gastric rupture
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Angelman's syndrome
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Angelman syndrome is a complex genetic disorder that primarily affects the nervous system
* 80% of cases occur due to the loss or mutation of maternal chromosome material at the Q 11 region of chromosome 15, 20% of cases are caused by paternal uniparental dies me of chromosome 15 meaning the patient has two copies of chromosome 15 from the father
* Affects one in 10,000 to 1 in 40,000 children
**Clinical features**
* Presents from six months with severe developmental delay and jittery movements, if walking is achieved the child usually has problems with balance and coordination – they have an ataxic gate
* Children typically have a happy and excitable personality but minimal speech, most have micro carefully and develop seizures by the age of three years
**Diagnosis**
* Suspected if a Childs development is delayed and any of the characteristic clinical features are present, deletion or inactivity of chromosome 15 is identified using fluorescent in situ hybridisation
**Management** includes specialist schooling and medication to control seizures and muscle twitching, life expectancy normal but child requires lifelong care
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What are X-lined disorders?
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When do features of behavioural disorders become apparent?
* Main features commence in the child's first few years and become more noticeable when circumstances change for example starting school. Diagnosis often initially suspected by children's parents, school or nursery staff or by a health visitor. Formal assessment carried out by child psychiatrist, community paediatrician or learning disability specialist
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ADHD
* Group of symptoms that include inattentiveness, hyperactivity and impulsivity
* Most common behavioural disorder in developed countries affecting 5–8% of school age children with a 3:1 boy: girl ratio
* Cause is unknown but can be familial and is more likely to affect children born before term, those with low-birth-weight or those whose mother is drunk alcohol misuse drugs during pregnancy
Epidemiology
* ADHD has a UK prevalence of 2.4%, about twice that of autism, and is more common in boys than in girls (M:F 4:1);
* Most children are diagnosed between the ages of 3 and 7;
* There is a possible genetic component.
* **Clinical feature**s are divided into two categories
* Inattentiveness: child has short attention span or is easily distracted
* Hyperactivity and impulsivity manifest as restlessness, constant fidgeting or overactivity
* Most children have problems in both categories
* **Diagnosis of ADHD**
* Based on observation rather than investigation results, includes a set of clear criteria in which six or more specific symptoms must be present
* **Symptoms must:**
* Be present for more than six months, occur before the age of 12 years, occur in at least two settings and affect the child's relationship with other people or their achievement at school
* **Management**
* Mild – moderate ADHD is managed with behavioural strategies tailored to the child
* If so the child may be treated with central nervous system stimulants such as methylphenidate - drugs = last resort and only available to those 5yrs+
* Symptoms usually improve but up to 60% experience symptoms as adults
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Medication used to treat ADHD
Use as last resort and only in those age 5+
* Methylphenidate is **first line in children** and should initially be given on a six-week trial basis. It is a CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor. Side-effects include abdominal pain, nausea and dyspepsia. In children, weight and height should be monitored every 6 months
* If there is inadequate response, switch to lisdexamfetamine;
* Dexamfetamine should be started in those who have benefited from lisdexamfetamine, but who can't tolerate its side effects.
In adults:
* Methylphenidate or lisdexamfetamine are first-line options;
* Switch between these drugs if no benefit is seen after a trial of the other.
All of these drugs are potentially **cardiotoxic**. Perform a baseline ECG before starting treatment, and refer to a cardiologist if there is any significant past medical history or family history, or any doubt or ambiguity
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Autism spectrum disorder
* Empower social interaction and communication with restricted or stereotyped behaviours
* Affect 1% in the UK, cause is unknown thought to be interaction between genes and the environment
**Clinical features**
* Clinical features vary greatly, symptoms are categorised into either problems with social interaction and communication and restricted/repetitive patterns of thought, interests and physical behaviours
* Examples of autism features
* Impaired social interaction e.g. preference for playing alone, poor eye contact, lack of understanding of non-verbal social cues and difficulty understanding others emotions
* Impaired communication e.g. delayed speech development and echolalia
* Specific patterns of interests and behaviours e.g. lack of imaginative play, repetitive behaviours such as hand flapping and distress when daily routines are changed
* Features are often noticed by parents, nursery teachers or other professionals, symptoms usually become more noticeable with age
* Children with Asperger's syndrome have a few problems with speech, are usually above average intelligence, do not have learning difficulties but they may have ADHD
**Diagnosis**
* Assessment combines information from nursery or school staff and a detailed clinical observation of the child to evaluate use of language, their behaviour, their cognitive ability and interaction with others
**Management**
No medication for the core symptoms but medication such as melatonin can treat associated symptoms such as disordered sleep
Techniques are used to improve communication skills and the ability to build relationships such as visual aids to plan daily activities and introduce new activities, picture exchange communication systems which can be used in children with little or no verbal communication, Makaton (sign language) and sensory toys that can help develop fine motor skills
50% of children with autism spectrum disorder also have a learning disability
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