Development Flashcards
What is global developmental delay?
Global developmental delay refers to a child displaying slow development in all developmental domains.
What might global developmental delay suggest as an underlying diagnosis?
Down’s syndrome
Fragile X syndrome
Fetal alcohol syndrome
Rett syndrome
Metabolic disorders
What is gross motor delay?
A delay that is specific to the gross motor domain
What might gross motor delay suggest as an underlying diagnosis?
Cerebral palsy
Ataxia
Myopathy
Spina bifida
Visual impairment
What is fine motor delay?
A delay that is specific to the fine motor domain
What might fine motor delay suggest as an underlying diagnosis?
Dyspraxia
Cerebral palsy
Muscular dystrophy
Visual impairment
Congenital ataxia (rare)
Language delay - A delay that is specific to the speech and language domain may indicate what underlying diagnosis?
Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking
Hearing impairment
Learning disability
Neglect
Autism
Cerebral palsy
Management of language delay
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.
Personal and Social Delay - a delay that is specific to the personal and social domain may indicate what?
Emotional and social neglect
Parenting issues
Autism
What is the legal framework for child safegaurding?
The legal framework for child safeguarding is the Children Act 1989
What is meant by ‘a child of need’?
A child is need refers to a child that is likely to need supportive services to maintain their health and development, or is disabled.
What is meant by child protection?
Child protection involves the process of protecting a child that is at risk of or suffering harm.
Types of abuse
Physical
Emotional
Sexual
Neglect
Financial
Identity
Risk factors for abuse?
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
Signs of abuse in children?
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
What measures can help support families with children with safegaurding concerns?
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
Managing safegaurding concerns
All NHS organisations should have a safeguarding team or safeguarding lead that should be available to assist with safeguarding concerns. Once a safeguarding concern is identified the person that identifies it is responsible for escalating it to someone that can take action on it. It is generally not the role of the doctor or nurse to investigate or manage the concern, but it is their responsibility to refer or pass this on to someone trained and in a position to investigate further and take action.
Generally safeguarding cases are referred to children’s services (social services) who can investigate further and decide what action needs to be taken. Most safeguarding cases don’t involve children being removed from their parents. Usually social services are able to put in extra support and services and follow up over time. If the child is in immediate danger the police may need to be involved. If they are acutely unwell or need a place of safety they should be admitted to hospital.
Maintaining a professional, open, honest and trusting relationship with parents or carers is important, even when they are responsible for the abuse. This will make all aspects of any investigation and management easier, and lead to better outcomes.
What issues with breastfeeding may lead to inadequete nutrition for the neonate?
Poor milk supply
Difficulty latching
Discomfort or pain for the mother
When is overfeeding more common in babies?
Both breast and bottle feeding can lead to overfeeding, however overfeeding is more common in bottle-fed babies.
The world health organisation recommend exclusive breastfeeding how long?
for the first 6 months of life
Benefits of breastfeeding?
Breast milk contains antibodies that can help protect the neonate against infection.
Breastfeeding has been linked to reduced infections in the neonatal period, better cognitive development, lower risk of certain conditions later in life and a reduced risk of sudden infant death syndrome.
Body composition appears to be slightly different between breast and bottle-fed babies and children and adolescents that were breastfed appear to have less obesity.
There is evidence that breastfeeding can reduce breast cancer and ovarian cancer risk in the mother.
Feeding Volumes in Babies
On formula feed, babies should receive around 150ml of milk per kg of body weight. Preterm and underweight babies may require larger volumes. This is split between feeds every 2-3 hours initially, then to 4 hours and longer between feeds. Eventually babies and infants transition to feeding on demand (when they are hungry).
60mls/kg/day on day 1
90mls/kg/day on day 2
120mls/kg/day on day 3
150mls/kg/day on day 4 and onwards
How much weight is it acceptable for a baby to lose in the first 5 days of life?
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
Most common cause excessive weight loss or not regaining weight in new borns?
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.
Weaning
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.
What is included on a child’s growth chart?
Growth charts are used to plot a child’s weight, height and head circumference against the the normal distribution for their age and gender. The child’s measurements are plotted on a graph using a dot. The age is plotted on the x-axis and the weight, height and head circumference are plotted on the y-axis.
Centiles (cent– meaning hundred) indicate where a child’s growth compares to the normal distribution for their age and sex.
What is important to establish when there are concerns re a childs growth chart?
The important thing when assessing a child where there are concerns about not gaining weight or height is to establish whether they are maintaining their centile. If a child is on the 9th centile, but they have always been on the 9th centile, that is much less concerning than a child that was on the 91st centile and is now on the 9th.
What are the three phases of growth?
First 2 years: rapid growth driven by nutritional factors
From 2 years to puberty: steady slow growth
During puberty: rapid growth spurt driven by sex hormones
What is defined as obese/overweight in children
Overweight is defined as a body mass index (BMI) above the 85th percentile and obese as above the 95th percentile
Why is childhood obesity increasing?
Obesity in children results from consuming more calories than are expended through activity and growth. Recently, access to readily available, affordable, hyper-palatable, high calorie foods has lead to the overconsumption of calories. There has been a shift from physical activities and outdoor play to sedentary activities such as video games and screens. This has contributed to an increase in childhood obesity.
Obesity in children: height considerations
Obese children are often tall for their age and come from overweight families. If children are short and obese, consider endocrine investigations for an underlying cause, such as hypothyroidism. A pathological cause is rare.
Effects of obesity in children
Bullying
Increased likelihood of it continuing into adulthood
Risk later in life of:
Imapired glucose tolerance
T2DM
CVD
Arthritis
Cancer
What is failure to thrive?
Failure to thrive refers to poor physical growth and development in a child.
What is faltering growth?
Faltering growth is defined in the 2017 NICE guidelines on faltering growth in children as a fall in weight across:
- 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
What is a centile space?
Centile spaces are the distance between two centile lines on a growth chart.
The distance between the 75th and 50th centile lines is a centile space.
A weight that falls this distance is a drop across one centile space.
For example, if the initial weight of a child is plotted halfway between the 9th and 25th centile lines and several months later is plotted halfway between the 2nd and 9th centile lines, they have dropped a full centile space.
Anything that leads to inadequate energy and nutrition can lead to failure to thrive. The causes can be categorised how?
Inadequate nutritional intake
Difficulty feeding
Malabsorption
Increased energy requirements
Inability to process nutrition
Failure to thrive: inadequate nutritional intake causes
Maternal malabsorption if breastfeeding
Iron deficiency anaemia
Family or parental problems
Neglect
Availability of food (i.e. poverty)
Failure to thrive: caused by difficulty feeding
Poor suck, for example due to CP
Cleft lip or plate
Genetic conditions with an abnormal facial structure
Pyloric stenosis
Failure to thrive: causes of malabsorption
Cystic fibrosis
Coeliac disease
Cows milk intolerance
Chronic diarrhoea
Inflammatory bowel disease
Failure to thrive: causes of increased energy requirement
Hyperthyroidism
Chronic disease - e.g. congenital heart disease, CF
Malignanacy
Chronic infections e.g. HIV or immunodeficiency
Failure to thrive: inability to process nutrients properly
Inborn errors of metabloism
T1DM
Failure to thrive - key areas to assess
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
How is BMI calculated
BMI is calculated as: (weight in kg) / (height in meters)2.
Feeding history
A feeding history involves asking about breast or bottle feeding, feeding times, volume and frequency and any difficulties with feeding. An eating history involves asking about food choices, food aversion, meal time routines and appetite in children. Asking the parent to keep a food diary can be helpful.
What BMI might indicate inadequate nutrition or a growth disorder?
BMI below the 2nd centile
What BMI might indicate inadequate nutrition or a growth disorder?
BMI below the 2nd centile
What mid-parental height might indicate inadequate nutrition or a growth disorder?
Height more than 2 centile spaces below the mid-parental height centile
How is mid parental height calculated
Mid parental height is calculated as: (height of mum + height of dad) / 2.
NICE reccomendations on investigating faltering growth?
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 as cystic fibrosis or pyloric stenosis.
Management of failure to thrive?
Management depends on the cause and may involve input from the multidisciplinary team. All children with faltering growth should have regular reviews to monitor weight gain. Reviews that are too frequent can increase parental anxiety.
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, however it often results in breastfeeding stopping. Mother should be encouraged to feed with breastmilk prior to top-up feeds, and express when not breastfeeding to encourage lactation to continue.
Where inadequate nutrition is the cause there are several management options based on individual circumstances:
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
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.
In paediatrics, what is short stature?
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.
Calculating a child’s predicted height?
Boys: (mother height + fathers height + 14cm) / 2
Girls: (mothers height + father height – 14cm) / 2
Causes of short stature (below 2nd centile) in children?
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
What Is Constitutional Delay In Growth and Puberty?
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.
What objective feature will be present in CDGP
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.
CDGP: diagnosis and management
Diagnosis is based on a suggestive history and examination and can be supported by an xray of the hand and wrist to assess bone age. Management involves excluding other causes of a short stature and delayed puberty, reassuring parents and the child and monitoring growth over time.
What are the four major domains of child development?
Gross motor
Fine motor
Language
Personal and social
What is gross motor development and in what pattern does it develop?
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
Gross motor milestone: 4 months
Child able to support their head and keep it in line with the body
Gross motor milestone: 6 months
Child can keep their trunk supported by their pelvis (maintain a sitting position)
However they may lack the BALANCE to do so
Gross motor milestone: 9 months
Child able to sit unsuported
Crawling
Able to keep their trunk and pelvis supported on their legs (maintain a standing position) and bounce on their legs when supported
Gross motor milestone: 12 months
Should stand and being cruising (walking whilst holding furniture)
Gross motor milestone: 15 months
Walk unaided
Gross motor milestone: 18 months
Child should be able to squat and pick things up from the floor
Gross motor milestone: 2 years
Run, kick a ball
Gross motor milestone: 4 years
Hop, climb and descend stairs like an adult
Fine motor - 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 inanimate object
Fine motor - early milestones:
6 months
Palmar grasp objects (wraps thumb and fingers around the object)
Fine motor - early milestones:
9 months
Scissor grasp of objects (squashes it between thumb and forefinger).
Fine motor - early milestones:
12 months
Pincer grasp (with the tip of the thumb and forefinger).
Fine motor - early milestones:
14-18 months
They can clumsily use a spoon to bring food from a bowl to their mouth.
Fine motor: drawing skills:
12 months
Holds crayon and scribbles randomly
Fine motor: drawing skills:
2 years
Copies vertical line
Fine motor: drawing skills:
2.5 years
Copies a horizontal line
Fine motor: drawing skills:
3 years
Copies a circle
Fine motor: drawing skills:
4 years
Copies cross and square
Fine motor: drawing skills:
5 years
Copies triangle
Fine motor: tower of bricks
14 months
Tower of 2 bricks
Fine motor: tower of bricks
18 months
Tower of 4 bricks
Fine motor: tower of bricks
2 years
Tower of 8 bricks
Fine motor: tower of bricks
2.5 years
Tower of bricks
Fine motor: tower of bricks
3 years
Can build a 3 block bridge or train
Fine motor: tower of bricks
4 years
Can build steps
Fine motor: pencil grasps
Under 2 years
palmar supinate grasp (fist grip)
Fine motor: pencil grasps
2-3 years
Digital pronate grasp
Fine motor: pencil grasps
3-4 years
Quadrupod grasp or static tripod grasp
Fine motor: pencil grasps
5 years
Mature tripod grasp
At what age should children meet the fine motor milestone of being able to thread bead onto a string and make cuts in the side of paper with scissors?
3 years
At what age should children meet the fine motor milestone of being able to cut paper in half with scissors?
4 years
What are the two components of language development
Expressive language
Receptive language
Expressive language milestones: 3 months
Cooing noises
Expressive language milestones: 6 months
Makes noises starting with consonants (g, b and p)
Expressive language milestones: 9 months
Babbles, sounding more like talking but not recognisable words
Expressive language milestones: 12 months
Saying single words in context e.g. ‘Dad-da’ or ‘hi’
Expressive language milestones: 18 months
5-10 words
Expressive language milestones: 2 years
Combines 2 words. Around 50+ words
Expressive language milestones: 2.5 years
Combines 3-4 words
Expressive language milestones: 3 years
Using basic sentences
Expressive language milestones: 4 years
Tells stories
Receptive language milestones: 3 months
Recognises parents and familiar voices and gets comfort from these
Receptive language milestones: 6 months
Recognises to tone of voice
Receptive language milestones: 9 months
Listens to tone of speech
Receptive language milestones: 12 months
Follows very simple instructions
Receptive language milestones: 18 months
Understands nouns - e.g. show me the spoon
Receptive language milestones:
2 years
Understands verbs e.g. show me what you eat with
Receptive language milestones: 2.5 years
Understands propositions (e.g. put the spoon ON the table)
Receptive language milestones: 3 years
Understands adjectives - show me the RED brick
Receptive language milestones: 4 years
Follows complex instructions, for example “pick the spoon up, put it under the carpet and go to mummy”
Receptive language - number of key words @ 18 months
1 key word
Receptive language - number of key words @ 2 years
2 key words
Receptive language - number of key words @ 3 years
3 key words
Receptive language - number of key words @ 4 years
4 key words
Personal and social milestones: 6 weeks
Smiles
Personal and social milestones: 3 months
Communicates pleasure
Personal and social milestones: 6 months
Curious and engaged with people
Personal and social milestones: 9 months
They become cautious and apprehensive with strangers
Personal and social milestones: 12 months
Engages with others by pointing and handing objects. Waves goodbye. Claps hands
Personal and social milestones: 18 months
Imitates activities such as using a phone
Personal and social milestones: 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.
Personal and social milestones: 3 years
They will seek out other children and plays with them. Bowel control.
Personal and social milestones: 4 years
Has best friend. Dry by night. Dresses self. Imaginative play.
Developmental milestones - red flags
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
What is meant by learning disability?
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.
Learning difficulty examples
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.
What is non-verbal learning disability?
Non-verbal learning disability refers to a specific difficulty in processing non-verbal information, such as body language and facial expressions
What is profound/multiple learning disability?
Profound and multiple learning disability refers to severe difficulties across multiple areas, often requiring help with all aspects of daily life.
Below what IQ is considered a profound learning disability?
Under 25
At what IQ is a learning disability considered severe?
25-40
At what IQ is a learning disability considered moderate?
40-55
At what IQ is a learning disability considered mild?
55-70
Causes of learning diasbility?
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.
Certain conditions are strongly associated with learning disability:
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
Management of LD
The key to managing learning disability is with a multidisciplinary approach to support the parents and child. This involves:
Health visitors
Social workers
Schools
Educational psychologists
Paediatricians, GPs and nurses
Occupational therapists
Speech and language therapists
At what age does puberty start in girls?
8-14
At what age does puberty start in boys?
9-15 years
Pubertal growth spurt - boys vs girls
Earlier in girls
Progression of puberty in girls
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.
Progression of puberty in boys
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.
How long does puberty take
Around 4 years from start to finish
What is tanner staging used for?
The tanner scale can be used to determine the pubertal stage based on examination findings of sex characteristics.
What is hypogonadism?
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
What are the two fundamental reasons hypogonadism occurs?
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)
Hypogonadotrophic hypogonadism
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”.
A deficiency of LH and FSH is the result of abnormal functioning of the hypothalamus or pituitary gland.
Hypergonadotropic Hypogonadism
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”).
Hypergonadotrophic hypogonadism is the result of abnormal functioning of the gonads
Hypogonadotrophic hypogonadism is a deficiency of LH and FSH - the result of abnormal functioning of the hypothalamus or pituitary gland. What could this be due to?
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
Hypergonadotrophic hypogonadism is the result of abnormal functioning of the gonads. This could be due to what?
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)
What type of hypogonadism does Kallman syndrome cause?
hypogonadotrophic hypogonadism
What is Kallman syndrome?
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).
What is the threshold for initiating investigations where there is no evidence of pubertal changes?
Age 13 in girls
Age 14 in boys
Investigation can also be considered when there is some evidence of puberty but no progression over 2 years.
Delayed puberty - history and examination
Detailed history of their general health, development, family history, diet and lifestyle.
An examination to assess height, weight, stage of pubertal development and features of underlying conditions.
Delayed puberty: investigations
Bloods for underlying medical conditions: FBC, U&Es, anti-TTG or anti-EMA
Hormonal blood tests for hormonal abnormalities: early morning serum FSH and LH, TFTs, ILGF-1, serum prolactin
Genetic testing with a microarray
Imaging: X ray of wrist, pelvic USS, MRI brain
What imaging may be useful in ?delayed puberty and why
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
Genetic testing with a microarray test can be used to look for what underlying genetic conditions when considering ?delayed puberty
Genetic testing with a microarray test can be used to look for underlying genetic conditions:
Kleinfelter’s syndrome (XXY)
Turner’s syndrome (XO)
What hormonal blood tests may be performed in ?delayed puberty
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
What bloods may be done to look for underlying medical conditions in ?delayed puberty and why
Full blood count and ferritin for anaemia
U&E for chronic kidney disease
Anti-TTG or anti-EMA antibodies for coeliac disease
Management of delayed puberty
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.
Karyotype in turners syndrome?
Turner’s syndrome (XO)
Karyotype in Kleinfelter’s syndrome
Kleinfelter’s syndrome (XXY)
What type of hypogonadism are Kleinfelter’s Syndrome (XXY) and Turner’s Syndrome (XO), and what will be seen on bloods?
Hypergonadotropic hypogonadism- 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”) - LOW FSH AND LH
When considering consent to treatment, how do 18 year olds, 16-17 year olds and under 16s differ?
A person is recognised as an adult with full autonomy to make decisions about their health when they turn 18.
16 and 17 year olds can also make independent decisions about their health, but if they refuse treatment this can be overruled in certain situations by parents, people with parental responsibility or the court.
Children under 16 can make decisions about treatment, but only if they are deemed to have Gillick competence. There is no lower limit to the age where children can make decisions about their health, however it is unusual for consent to be taken from someone under 13.
What is Gillick competence?
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.
Criteria for Frazer guidlines?
They are mature and intelligent enough to understand the treatment
They can’t be persuaded to discuss it with their parents or let the health professional discuss it
They are likely to have intercourse regardless of treatment
Their physical or mental health is likely to suffer without treatment
Treatment is in their best interest
Confidentiality and Frazer guidlines
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.
What are the Frazer guidelines for?
Frazer guidelines are specific guidelines for providing contraception to patients under 16 years without having parental input and consent.
Under what age does a child participating in sexual activity warrant immediate safegaurding referal?
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.
Contraception in under 16s - breaking confidentiality
Where the child is not deemed to be Gillick competent and the child is at risk of harm, this should be escalated as a safeguarding concern.
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.
What hormone is responsble for growth spurts in the begining of puberty?
GnRH
In children whom conservative measures including a reward system and enuresis alarm fail to control nocturnal enuresis, drug treatment may be trialed in children over 7 years of age. The first line choice is what, and for how long is it given?
Desmopressin, a synthetic replacement for antidiuretic hormone.
Treatment should be assessed after one month and continued for three months if there are signs of response
At what age would the average child start to smile?
6 weeks
GDPP vs GIPP
In gonadotrophin dependent precocious puberty (GDPP), or ‘central’ precocious puberty, the levels of the gonadotrophins LH and FSH would be high and testes would be large for age.
In GIPP symptoms are caused by increased levels of sex hormones, for example, testosterone, leading to the suppression of LH and FSH. Increased sex hormone secretion may be due to ovarian, testicular or adrenal causes like congenital adrenal hyperplasia. In boys, the testicular volume will tend to be normal or small.
At what age would the average child start to say ‘mama’ and ‘dada’?
9-10 months
Hand preference before what age is abnormal?
Hand preference before 12 months is abnormal - it could be an indicator of cerebral palsy
Hand preference before 12 months of age could be an indicator or cerebral palsy?
Hand preference before 12 months is abnormal - it could be an indicator of cerebral palsy
At what age would the average child acquire a good pincer grip?
12 months
Small testes in precocious puberty indicate what cause of symptoms?
Small testes in precocious puberty indicate an adrenal cause of the symptoms
What are growing pains
Growing pains are equally common in boys and girls and occur in the age range of 3-12 years.
Features of growing pains
never present at the start of the day after the child has woken
no limp
no limitation of physical activity
systemically well
normal physical examination
motor milestones normal
symptoms are often intermittent and worse after a day of vigorous activity
Which type of NF is associated with peripheral stigmata
NF1, may also have central NF1
Features of PKU (phenylketonuria)
Clinical features include fair hair and pale blue eyes, a ‘musty’ odour, progressive developmental delay and general learning disability, recurrent vomiting, eczematous skin eruptions, seizures and severe behavioural disturbance. However, most diagnoses of PKU occur through an abnormal result of the heel-prick blood assay at birth.
What areas does the NIPE focus on?
Eyes
Heart
Hips
Testes
By what point should the NIPE be completed?
72 hours
When is the new born blood spot ideally done?
Day 5
When should the infant examination be performed?
6-8 weeks
Newborn bloodspot screening - which conditions?
Congenital hypothyroidism
Cystic fibrosis
PKU
Sickle cell
MCADD
Beta thalassaemia major
Homocystinuria
Isovaleric acidaemia, glutaric aciduria type 1, maple syrup urine disease
Normal pre-pubertal growth rate
4-8cm/year
Predicted height - male
Total of parents height / 2
+ 7 cm
Predicted height - female
Total of parents height / 2
- 7 cm
