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Paediatrics > Assessing Growth & Pubertal Development & Paediatric Genetics > Flashcards

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 = ?

A

ABNORMAL

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
Q

What are the 4T’s of diabetes symptoms?

A

Thirsty
Tired
Thinner
using the Toilet more

26
Q

What is a red flag symptom for diabetes in children?

A

A return to bedwetting or day wetting in a previously dry child

27
Q

In children under 5 what should also be thought about in relation to diabetes?

A
  • Heavier than usual nappies
  • Blurred vision
  • Candidiasis (oral, vulval)
  • Constipation
  • Recurring skin infection
  • Irritability, behaviour change
28
Q

What are the symptoms of DKA?

A
  • N & V
  • Abdo pain
  • Sweet smelling ketotic breath
  • Drowsiness
  • Rapid, deep ‘sighing’ resp
  • Coma
29
Q

How to test in diabetes suspected?

A

Finger prick capillary glucose test

Result > 11 mmol/l=Diabetes
<11=another cause

30
Q

Should children be reviewed the same in diabetes?

A

YES, Same day review

  • DKA can occur very quickly in children
  • Don’t delay diagnosis
31
Q

What is Trisomy 21 (Down syndrome) associated with?

A
  • Learning disability
  • CHD
  • Hypothyroidism
  • Immune issues
  • Early onset Alzheimer disease

Non-invasive prenatal testing will mean more of these pregnancies are detected prenatally

32
Q

How is down syndrome screened for?

A

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
Q

What other trisomy’s are also common except Trisomy 21?

A

Trisomy 13
Trisomy 18

Big variation in survival-majority die in early life

34
Q

What is a syndrome?

A

A pattern of clinical features occurring together

35
Q

How do we diagnose a rare intellectual disability +/or a malformations syndrome?

A

History
Description
Recognition of patterns

Testing:
- Standard- biochemical, chromosome structure
(Microarray now standard)
- Targeted testing
- Moving to trio-based exome / genome

36
Q

How do we describe a dysmorphic child?

A

Position and shape of facial features

Hands

Growth of child

General features

37
Q

What do we look at on the head in terms of genetic abnormalities?

A

HEAD:

  • Shape
  • Size (macrocephaly, microcephaly)
  • Ear position (low set, posteriorly rotated indicates lack of maturity)
38
Q

What abnormalities of the eyes and hands can be seen in genetic conditions?

A

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
Q

What is a sign in the hands of Marfan’s syndrome?

A

Arachnodactyly

MF/THL is usually >44%

40
Q

What is Brachydactyly?

A

Short, fat fingers

41
Q

Does malformation always occur alone?

A

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
Q

A sequence is when abnormality leads to another, can have multiple cause: what are some examples of this?

A

Pierre-Robin sequence=small chin to cleft palate

Fetal akinesia sequence
- reduced fetal movement
- reduced breathing
- contractures
- clefting
- lung hypoplasia

43
Q

How is fetal akinesia picked up?

A

20 week scan

  • Abnormal limb position
  • Reduced fetal movements
  • Mild polyhydamnios?
44
Q

What is deformation & disruption?

A

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
Q

What is deformation & disruption?

A

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
Q

What is association specifically VATER association?

A

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
Q

What is a syndrome?

A

A distinct group of symptoms & signs which, associated together, form a characteristic clinical picture or entity

Cause may or may not be known

47
Q

What are the signs and associations of Turner syndrome (45 X)

A

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
Q

What genetic investigations are done for learning disability?

A

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
Q

What complications are associated with 22q1 deletion (Di george)?

A

Cleft palate
Abnormal facies
Thymic hypoplasia / immune deficiency
Calcium abnormalities
Heart problems

Caused by 22 deletion
“CATCH 22”

50
Q

How is Glut1 deficiency: SLC2A1 deletion or mutation (epilepsy condition example) treated?

A

With ketogenic diet

51
Q

Copy number variants and sequence variation is normal so how can thousands of genes be tested and still find the cause of intellectual disability?

A

Whole-Exome Sequencing of Germline DNA

52
Q

Why is phenotyping important?

A

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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