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Assessing Growth & Pubertal Development & Paediatric Genetics Flashcards

1
Q

How do you put the height of the child into perspective?

A

According to parental heights

Target height & mid parental height (MPH)

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2
Q

How do we assess bone age?

A

TW20

  • Xray of hand
  • Severe osteopenia confuses interpretation
  • Pathological conditions can distort bones
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3
Q

What assessment tools are used for development?

A
  • Height/length/weight
  • Growth charts & plotting
  • MPH & target centiles
  • Growth velocity
  • Bone age
  • Pubertal assessment
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4
Q

What are some common causes of short stature?

A
  • Familial short stature
  • Constitutional delay of growth & puberty
  • SGA/IUGR
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5
Q

What investigations can be done in short stature & pubertal delay?

A
  • FBC & ferritin (coeliac, chron’s, JCA)
  • U&E, LFT, Ca, CRP (disorders of Ca metabolism)
  • Coeliac serology & IgA
  • Look for hormonal disorders (cortisol, TFT, IGF-1, prolactin)
  • Karotype/Microarray (Turner’s syndrome, chromosomal abnormalities)
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6
Q

How do you confirm growth hormone problems?

A

GH stimulation- 2 tests
- Arginine test
- Insulin tolerance test

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7
Q

What is used to assess puberty?

A

Tanner staging

Breast, genital, pubic hair, axillary hair & testicular volumes

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8
Q

What is the difference between stage 1 & stage 2 in the tanner staging?

A

Stage 1=Pre-pubertal
Stage 2=Beginning of puberty

Pubertal tempo is also important

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9
Q

What hormones are responsible for the production of secondary sexual characteristics (pubic & axillary hair)?

A

Adrenal hormones

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10
Q

What are the definitions of early & delayed puberty in boys compared to girls?

A

BOYS:
Early=<9years (rare)
Delayed=>14 (common, especially CDGP)

GIRL
Early=<8years
Delayed=>13years (rare)

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11
Q

CDGP is in boys mainly: what is needed to exclude?

A

Need to exclude organic disease

  • Bone age delay
  • FH
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12
Q

What is the tanner staging of breast budding and testicular enlargement?

A

-Breast budding (Tanner stage B2) in a girl
- Testicular enlargement (Tanner stage G2-T4 ml)

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13
Q

What is the karotype of Turner syndrome?

A

45X0

  • Short stature
  • Ovarian dysgenesis
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14
Q

What are some associated problems with Turner syndrome?

A

Associated disorders: cardiac, renal, thyroid, ENT problems

Psychosocial/educational difficulties

Physical stigmata (web neck, childlike proportions etc)

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15
Q

How are girls with Turner syndrome treated?

A

GH

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16
Q

Prader willi syndrome: what causes it and what are the signs of it?

A

Deletion of 15q11-q13 chromosomal region

  • Infantile hypotonia/feeding problems
  • Hyperphagia/obesity in childhood
  • Short stature
  • Developmental delay
  • Hypogonadism

Give GH

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17
Q

Noonan syndrome is associated with what features?

A
  • Typical facial features
  • Short stature
  • Congenital HD (pulmonary valve stenosis)
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18
Q

What is achondroplasia (short limbed dwarfism) associated with?

A
  • Long bones don’t grow properly
  • Supportive management
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19
Q

What are the causes of delayed puberty?

A
  • Chronic disease & constitutional
  • Primary gonadal disorders (Gonadal dysgenesis (Turners, Klinefelter’s,DSD), testicular irradiation)
  • Impaired HPG axis (septo-optic dysplasia, craniopharyngioma, Kallman’s syndrome)
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20
Q

What is central precocious puberty?

A
  • True pubertal development (breast development & testicular enlargement
  • Growth spurt
  • Advanced bone age

Need to exclude pituitary lesion—MRI

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21
Q

What is see in precocious pseudopuberty?

A
  • Secondary sexual characteristics
  • Gonadotrophin independent (low/prepubertal levels of LH & FSH0
  • Most common early adrenarche

Need to exclude congenital adrenal hyperplasia

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22
Q

OBESE + SHORT = ?

23
Q

What are the causes of obesity in children?

A
  • Simple obesity
  • Drugs
  • Syndromes
  • Endocrine disorders
  • Hypothalamic damage

Investigations are rarely necessary

24
Q

What are a few things to watch for in the case of an obese child that might need further investigation?

A

Endocrine causes—Growth failure

Syndromes—Learning difficulties

Hypothalamic causes—Loss of appetite control

Genetic causes—Starts before age 5

25
What are the 4T's of diabetes symptoms?
Thirsty Tired Thinner using the Toilet more
26
What is a red flag symptom for diabetes in children?
A return to bedwetting or day wetting in a previously dry child
27
In children under 5 what should also be thought about in relation to diabetes?
- Heavier than usual nappies - Blurred vision - Candidiasis (oral, vulval) - Constipation - Recurring skin infection - Irritability, behaviour change
28
What are the symptoms of DKA?
- N & V - Abdo pain - Sweet smelling ketotic breath - Drowsiness - Rapid, deep 'sighing' resp - Coma
29
How to test in diabetes suspected?
Finger prick capillary glucose test Result > 11 mmol/l=Diabetes <11=another cause
30
Should children be reviewed the same in diabetes?
YES, Same day review - DKA can occur very quickly in children - Don't delay diagnosis
31
What is Trisomy 21 (Down syndrome) associated with?
- Learning disability - CHD - Hypothyroidism - Immune issues - Early onset Alzheimer disease Non-invasive prenatal testing will mean more of these pregnancies are detected prenatally
32
How is down syndrome screened for?
Prenatal screening for Down syndrome is regarded as standard of care in Western obstetrics Non-invasive prenatal testing using next-generation sequencing of free fetal DNA in maternal blood is no risk to fetus Ethical issues of Is a world without Down syndrome acceptable?
33
What other trisomy's are also common except Trisomy 21?
Trisomy 13 Trisomy 18 Big variation in survival-majority die in early life
34
What is a syndrome?
A pattern of clinical features occurring together
35
How do we diagnose a rare intellectual disability +/or a malformations syndrome?
History Description Recognition of patterns Testing: - Standard- biochemical, chromosome structure (Microarray now standard) - Targeted testing - Moving to trio-based exome / genome
36
How do we describe a dysmorphic child?
Position and shape of facial features Hands Growth of child General features
37
What do we look at on the head in terms of genetic abnormalities?
HEAD: - Shape - Size (macrocephaly, microcephaly) - Ear position (low set, posteriorly rotated indicates lack of maturity)
38
What abnormalities of the eyes and hands can be seen in genetic conditions?
EYES - Hypertelorism (Inner canthal distance ICD and inter-pupillary distance IPD increased) - Telecanthus / epicanthic folds (ICD and IPD increased) HANDS Finger length Digital abnormalities Palmar creases Examples Marfan syndrome, Down syndrome
39
What is a sign in the hands of Marfan's syndrome?
Arachnodactyly MF/THL is usually >44%
40
What is Brachydactyly?
Short, fat fingers
41
Does malformation always occur alone?
Can occur alone or as part of a syndrome eg. polysyndactylty alone (Hox D13 one cause) or acrocephalopolysyndatyly (Greig / GLI3) (Tall forehead, polydactyly & syndactyly)
42
A sequence is when abnormality leads to another, can have multiple cause: what are some examples of this?
Pierre-Robin sequence=small chin to cleft palate Fetal akinesia sequence - reduced fetal movement - reduced breathing - contractures - clefting - lung hypoplasia
43
How is fetal akinesia picked up?
20 week scan - Abnormal limb position - Reduced fetal movements - Mild polyhydamnios?
44
What is deformation & disruption?
Pattern of development normal to start with but becomes abnormal Deformation-organ parts are there Disruption-Part of organ/body part absent E.g. Amniotic bands
44
What is deformation & disruption?
Pattern of development normal to start with but becomes abnormal Deformation-organ parts are there Disruption-Part of organ/body part absent E.g. Amniotic bands
45
What is association specifically VATER association?
Two features or more features occur together more often than expected by chance - mechanism unclear VATER vertebral anomalies/VSD ano-rectal atresia tracheo-oesophageal fistula radial anomalies
46
What is a syndrome?
A distinct group of symptoms & signs which, associated together, form a characteristic clinical picture or entity Cause may or may not be known
47
What are the signs and associations of Turner syndrome (45 X)
Lymphoedema (Puffy feet, nuchal translucency / cystic hygroma) Increased carrying angle, low hairline, wide sp nipples, sandal gap Short stature, occ. v mild learning diffy Coarctation of aorta, hypothyroidism, UTI, osteoporosis & hypertension Primary amenorrhoea & infertility Hormonal therapy mitigates some features
48
What genetic investigations are done for learning disability?
Microarray Fragile X Targetted tests driven by phenotype Trio based Exome vs. trio-base genome analysis Funding remains an issue Trio-based exome in Scotland and genome in England!
49
What complications are associated with 22q1 deletion (Di george)?
Cleft palate Abnormal facies Thymic hypoplasia / immune deficiency Calcium abnormalities Heart problems Caused by 22 deletion “CATCH 22”
50
How is Glut1 deficiency: SLC2A1 deletion or mutation (epilepsy condition example) treated?
With ketogenic diet
51
Copy number variants and sequence variation is normal so how can thousands of genes be tested and still find the cause of intellectual disability?
Whole-Exome Sequencing of Germline DNA
52
Why is phenotyping important?
The key to assessment of clinical relevance is the phenotype That’s why accurate description of clinical features is important A diagnosis helps the family see the future- can help with future pregnancy planning, clinical care and treatment

Paediatrics (17 decks)

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