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Paediatrics > Seminar 2: History taking > Flashcards

Seminar 2: History taking Flashcards

1
Q

why is history taking important?

A

-information gathering
- Ascertain child’s development, health and previous medical history
-Significant changes in hearing or health
-Rapport building
-Appropriate testing strategy
-Family engagement
-Patient management: discharge or regular follow ups needed?-based on history

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2
Q

what are some tips for history taking?

A

-observing the child and their interactions with their family members or carers
- Use this time to build rapport with the family
-Assess the child’s cognitive ability to perform the chosen hearing test (e.g. VRA/play)
-take notes in appropriate manner (don’t just look at the screen)
- make the best use of the time that you have with the child’s attention, you can always come back to the history (maybe move onto testing)

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3
Q

what are some important aspects to cover in paediatric history taking?

A
  • whether they passed their newborn hearing screening
  • if the child is do enough, ask them about their hearing?
  • how does the child currently communicate?
  • ENT symptoms? Tonsils? Grommets?
  • Vision history? can they see the 1m for play audiometry? vison can be linked to other conditions? syndromes? early onset of glaucoma?
  • onset, duration and progress of symptoms
  • balance and dizziness
  • tinnitus and hyperacusis
  • drugs, alcohol, diabetes
  • school and education type
    -how is the general health
    -pregnancy and birth history- post natal history: sepsis, NICU,SCBU, High dependency unit, Jaundice
    -parent concerns about hearing
    -speech and language history: (expressive, receptive, play skills)
    -family history
    -general development
  • Medical history: ototoxic medication, head injury, meningitis
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4
Q

what are some history taking questions you should ask about the child’s hearing?

A

-parental hearing concerns?
-how does your child respond to sounds at home? DO they respond to sounds from a distance/
-Do the play group/ school/ nursery have any hearing concerns?
-Reports of ringing or buzzing noises in their ears?

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5
Q

what are some history taking questions you should ask about the child’s speech and language?

A

-parental concern?
-when did they start babbling or saying words?
-previous speech and language therapy
-Vocabulary size, stringing words together
-Exposure to multiple languages
- Clarity of speech; understandable to others
-Communicating and expressing their needs

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6
Q

what are some history taking questions you should ask about the child’s family history of HL?

A

-Anyone in mum/dad’s family born with a HL?
-Cause of the HL known?
-HL previously investigated?
- parents and siblings need hearing tests as they may have undiagnosed mild HL.
- Helpful when interpreting genetic test results.

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7
Q

what are some history taking questions you should ask about the child’s general health?

A
  • Recent coughs/ colds?
  • Any recent ear infections, pain or discharge?
  • Known previous ear problems?
  • Has you child been seen by the ENT Department before?
  • Is there any history of jaundice?
  • Has you child ever been diagnosed with any conditions/ disorders/ syndromes?
  • Is there any significant medical history you have not mentioned?
  • Any long term medication with possible ototoxic effect?
  • Previous infectious diseases?
  • Previous illnesses (meningitis/ mumps/ measles)?
  • Has your child got a programmable VP (ventriculo- peritoneal) shunt?
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8
Q

what are some history taking questions you should ask about the child’s pregnancy and birth?

A
  • how many weeks was your child born at?
  • Complications during the pregnancy/ birth?
  • Special care baby unit admission
  • Medications or drugs during the pregnancy (antibiotics after infections)
  • Medications at birth
  • New- born hearing screen results
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9
Q

what are some history taking questions you should ask about the child’s general development?

A
  • parental concerns
  • Sitting, crawling, walking milestones
  • Ability to follow instructions
  • Recognising delayed development
  • REMEMBER CHILD DEVELOPMENT LECTURE
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10
Q

what are some history taking questions you should ask about the child’s social and eductional?

A
  • Do they like to play/ interact with other children? (how do they interact)
  • Making eye contact when speaking
  • Progression in school
  • Behaviour in school
  • Extra support at school

*this is the parents opinion so you need to write “mum reports” as the school may report something different

  • these issues can be caused by other health conditions so its important to refer to see if you need to refer to another department (paediatrics)
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11
Q

During the history the parent reports significant concerns with the child’s speech and language development. What are your next steps?

A
  • what is the concern?
    -how are we going to manage it? what kind of tests? we can do a speech test but can we on this child at this age? do we need to refer to speech and language therapy? Engage with the child(depend on age). How many words do they have? Are they being exposed to language? Do the parents talk to and read to the child?
  • is there any other developmental concerns?
  • who else has concerns about the child’s speech?
  • if you compare the child to someone else of their age, are they behind?
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12
Q

From your history you find out the child has developmental delay. What further information do you want to obtain and how this cab impact your testing?

A
  • what is their predicted age at the moment as there’s different tests we do at different developmental ages. Be flexible with testing, you can change it after.

we are trying yo find out what is the most appropriate test for them.

  • when was their developmental milestone? are the parents here for the hearing or is it to rule something else? to what extent is it delayed? is there an underlying cause or syndrome that could be affecting hearing levels?
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13
Q

Upon history taking you are informed a child has Autism Spectrum Disorder. How does this impact your appointment? Does it effect your room set up and how you conduct the testing?

A

Every child is different so what is the severity for this child? engage in the child in a way that works for them like trains. find out what their understanding is and then work with them on what testing they can do.
- Be adaptable

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14
Q

what are aetiological investigations?

A

medical tests and assessments performed to identify the cause of a condition, like a HL

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14
Q

why is report writing important?

A
  • Accurate log of key information.
  • Provides parents/ guardians with a summary of the appointment.
  • Updates the referrer and other healthcare professionals.
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14
Q

why do we need to establish the cause of a HL?

A

*Address parental concerns: - “why is my child deaf?” and “ is the HL likely to worsen?”.

*Identify syndromes: -detect syndrome causes linked to other health conditions.

*Uncover associated medical conditions: -manage co-occurring conditions that may impact health or development

*Detect abnormalities of the inner ear: - helps guide surgical or medical management.

*Identify genetic causes: - determine inheritance patterns and provide genetic counselling for family planning.

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15
Q

what are some factors that affect aetiological investigations are carried out?

A
  • Time window for the test:- is it within appropriate clinical timelines
  • Family preparedness: asses whether the family is emotionally and practically ready.
  • Childs readiness: if they can tolerate or cooperate with tests
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16
Q

When would you revisit aetiological investigations?

A
  • New medical information and testing available.
  • New symptoms.
  • New important info from family history available.
  • Progressive HL.
  • Parental or young person request.
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17
Q

Who conducts these aetiological investigations?

A

A MDT including audiologists, NET specialists, geneticists and paediatricians.

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18
Q

what clinical examination do you do for a child with mild to moderate PCHI?

A
  • General measurements: Height, weight and head circumference. (provide a baseline for growth and development and deviations could indicate medical conditions associated with HL).

*Clinical exam of craniofacial region: -Ears (ear pits, tags, otoscopy)
- Neck (skin tags, scars).
- Oral Cavity
- Nose
-Skull

  • Systemic exam: -skin, spine, limbs, neurological assessment

*Developmental assessment

  • Clinical vestibular examination
  • Eye exam
  • Exam of parents
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19
Q

why is family history important in assessing HL?

A
  • to identify possible undiagnosed HL in parents and siblings that give clues about hereditary conditions.
  • family may have undiagnosed mild HL
  • Helpful when interpreting genetic test results like mutations linked to HL (e.g. Connexin 26)
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20
Q

What is CMV (cytomegalovirus)?

A

its a common virus that can affect people of all ages but congenital CMV can be serious.

  • its one of the most common causes of SNHL in children and often leads to progressive or delayed onset HL
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21
Q

when is CMV tested requested?

A
  • when SNHL is suspected
  • CMV test should occur ASAP
  • window of opportunity for treatment is within 4 weeks
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22
Q

How is CMV diagnosed?

A

<3 weeks of age= 2 saliva swabs or urine samples; a positive test confirms congenital CMV

> 3 weeks of age: Neonatal dried blood spot required for confirmation (with parental consent)

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23
Q

Why is a fast testing pathway for CMV important?

A

Early detection ensures timely treatment, helping to prevent or minimize hearing loss and developmental complications.

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24
Q

What is Connexin 26?

A

protein which forms gap junctions in the ear, essential for potassium recycling in the auditory system.

25
Q

What is a common genetic cause of congenital SNHL?

A

Mutations in Connexin 26 (caused by the GJB2 gene)

26
Q

What are GJB2 and GJB6 genes?

A

GJB2: Gene responsible for Connexin 26.

GJB6: Gene responsible for Connexin 30, another protein involved in hearing.

27
Q

How do GJB2 mutations cause hearing loss?

A

Mutations in GJB2 lead to incorrectly formed proteins, disrupting the formation of gap junctions, which impairs potassium recycling in the inner ear and results in congenital deafness.

28
Q

What is DFNB1 deafness?

A

Deafness caused by Connexin 26 mutations is also referred to as DFNB1 deafness.

29
Q

Why is genetic testing for GJB2 mutations straightforward?

A
  • GJB2 gene is very short; genetic testing is relatively easy
30
Q

What is the role of gap junctions in the inner ear?

A

Gap junctions connect supporting cells and help remove potassium from hair cells after depolarisation to allow them to repolarise.

31
Q

What is the process of potassium recycling in the inner ear?

A

1- Potassium enters hair cells during depolarisation.

2- Neurotransmitter is released, and the auditory nerve fires.

3- Potassium is removed via gap junctions to supporting cells.

4- It moves through ion channels → spiral ligament → stria vascularis → and returns to the endolymph.

*This process resets the hair cell for the next signal.

32
Q

What happens when gap junctions are not formed correctly?

A

Potassium cannot be removed from hair cells, disrupting depolarisation and auditory nerve function, which leads to hearing loss.

33
Q

What type of imaging is used for different types of hearing loss?

A
  • Sensorineural hearing loss (SNHL): MRI scan.
  • Conductive hearing loss (CHL): CT scan.
  • Meningitis: Both MRI and CT scans.
34
Q

When should imaging be conducted?

A

Imaging should occur soon after diagnosis to ensure timely assessment.

35
Q

How is imaging performed for young children?

A

Use natural sleep for young babies when possible.
Older children may require sedation or general anaesthesia (GA) for the procedure.

36
Q

Why is an ophthalmic assessment important for children with PCHI? (permanent childhood hearing impairment)

A

20-60% of children with PCHI have ophthalmic abnormalities, often undetected,

which can impact communication and learning.

37
Q

When should a child with PCHI be referred for a full ophthalmic assessment?

A

– Following a PCHI diagnosis
– If the parent or education service have concerns
– At 1-3 years of age
– At 4-5 years of age(this is usually a vision screening by an orthoptist at school)
– At 7-9 years of age, when the cause of the deafness is not known
– Transition to secondary school

38
Q

Why and when is a urine examination conducted in mild to moderate PCHI?

A
  • Urine is tested for haematuria and proteinuria to detect possible renal conditions,
  • especially if there is a family history of renal disease.
  • Testing should be conducted as soon as possible based on the suspected condition
  • and is advised to be repeated at least once for confirmation.
39
Q

What is the purpose of serology testing in mild to moderate PCHI?

A

Serology testing is used for children with sensorineural hearing loss (SNHL) to exclude congenital infections such as syphilis, HIV, and rubella.

40
Q

When is further genetic testing indicated in PCHI?

A

if the child has:

  • Progressive hearing loss.
  • High-frequency SNHL.
  • Developmental delay or dysmorphic features.
41
Q

When is a renal ultrasound recommended in PCHI?

A

for children with:

  • Preauricular pits, sinuses, or ear deformities.
  • Mondini defect or enlarged vestibular aqueduct on imaging.
  • Permanent conductive or mixed hearing loss.
  • Suspected syndromes involving kidney abnormalities.
42
Q

Why are thyroid function tests performed in PCHI?

A

Thyroid function tests are performed for children with:

  • Goitre or family history of thyroid disease.
  • Structural abnormalities like Mondini deformity or enlarged vestibular aqueduct (EVA).
43
Q

When are autoimmune diseases screened for in PCHI?

A

Autoimmune disease screening is done when there is evidence of progressive hearing loss or when it is clinically indicated.

44
Q

What is included in a metabolic screen for PCHI?

A

A metabolic screen includes blood and urine tests and may be indicated for children with epilepsy or other related conditions.

45
Q

When should diagnostic vestibular investigations be conducted in PCHI?

A
  • Delayed motor milestones.
  • Progressive hearing loss.
  • Vertigo or dizziness.
  • Conditions known to cause vestibular dysfunction or vestib malformations.
46
Q

What are the key guidelines for managing PCHI?

A

Management should address:

  • Progressive PCHI.
  • Severe to profound PCHI.
  • Unilateral PCHI.
  • Auditory
    Neuropathy Spectrum Disorder (ANSD).
47
Q

When should a geneticist be involved in the evaluation of PCHI?

A
  • There is a family history of hearing loss.
  • A syndrome is suspected.
  • A parent requests further genetic evaluation.
48
Q

What are the key features of Waardenburg syndrome

A

*Presenting features:

  • Pigmentary abnormalities (e.g., white forelock).
  • Different coloured irises (heterochromia).
  • Wide spacing between the eyes (telecanthus).
    Inheritance:

Autosomal dominant inheritance.
Prevalence:
- About 3% of children with HL.

*Four types (Type 1-4), with symptoms varying between types.
Hearing loss:

  • Bilateral HL often present with varying severities.
  • Not all individuals with Waardenburg syndrome exhibit hearing loss.
49
Q

What are the key features of Alport syndrome?

A
  • Kidney function: Progressive loss of kidney function, often presenting as haematuria (blood in urine).
  • Prevalence: Occurs in 1 in 50,000 births.
  • Inheritance:
    *Most cases (80-85%) are X-linked (boys more severely affected than girls).
    *In autosomal dominant cases, boys and girls are equally affected.
  • Nephritis: Reduced ability of the kidneys to filter waste from blood.
  • Progression: Kidney function typically deteriorates during teenage years.
  • Hearing loss:
    About 50% of patients have sensorineural hearing loss, often progressive.
50
Q

What are the key features of Jervell and Lange-Nielsen syndrome?

A
  • Prevalence: Accounts for 1% of children with profound SNHL.
  • Inheritance: Autosomal recessive.
  • Cause: Mutations in genes affecting the structure and function of potassium channels.
  • Effects:
    *Causes sensorineural hearing loss (SNHL).
    *Leads to an irregular heart rhythm (long QT syndrome).
  • Long QT: The cardiac muscle takes longer to recharge, increasing the risk of arrhythmias.
51
Q

How does Jervell and Lange-Nielsen syndrome affect the ECG and inheritance?

A

*ECG findings:

  • Shows a prolonged QT interval, indicating delayed cardiac muscle repolarisation, which can lead to arrhythmias.

*Inheritance pattern:

  • Autosomal recessive.
  • A single copy of the mutated gene results in long QT syndrome.
  • A double copy of the mutated gene causes Jervell and Lange-Nielsen syndrome, which includes profound SNHL.
52
Q

What are the key features of Usher syndrome?

A

*Characteristics:

  • Hearing loss (HL).
  • Progressive vision loss (retinitis pigmentosa, RP).
  • Vestibular dysfunction (balance problems).

*Inheritance pattern: Autosomal recessive.

*Prevalence: Affects approximately 400,000 people worldwide.

*Types of Usher syndrome:

  • Type 1:
    Babies born profoundly deaf.
    Severe balance problems.
    Develop vision difficulties (RP) by age 10.
  • Type 2:
    Babies born with mild to severe HL.
    Normal balance.
    Slow visual deterioration; develop RP in teens or early 20s.
  • Type 3:
    Babies born with normal hearing.
    Variable balance difficulties.
    Hearing and vision deteriorate over time; develop SNHL and RP.
53
Q

What are the key features of Down’s syndrome?

A

*Prevalence: Occurs in approximately 1 in 660 births.

*Cause: Trisomy 21, an extra copy of the 21st chromosome.

*Presenting features:
- Flattened nasal bridge.
- Upward slanting eyes.
- Protruding tongue.
- Single palmar crease.
- Low muscle tone (hypotonia).

*Associated conditions:
- Congenital heart defects (e.g., atrioventricular septal defect).
- Conductive or sensorineural hearing loss.
- Early onset presbycusis, cataracts, and dementia.

54
Q

What are the key features of Osteogenesis Imperfecta (OI)?

A

*Definition: Genetic disorder, also known as brittle bone disease, caused by a defect in collagen.

*Prevalence: Affects 1 in 15,000 babies.

*Signs and symptoms:
- Bones that break easily, often without known cause or with minor trauma.
- Bone pain and deformity.
- Brittle teeth.
- Blue or grey tint to the whites of the eyes (sclera).
- Hearing impairment that often develops after puberty.
- Shorter stature.

55
Q

What are the types of Osteogenesis Imperfecta (OI) and their characteristics?

A

*Type I:
- Less collagen than normal.
- Fragile bones with no deformities.
- Fractures typically decrease after puberty.

*Type II:
- Severe form; babies are born with many fractures and severe breathing problems.
- Most do not survive infancy.

*Type III:
- Shorter stature compared to peers.
- Severe bone deformities and breathing problems.
- Brittle teeth and curved spine.

*Type IV:
- Mild to serious bone deformities.
- Short stature with frequent fractures.
- Curved spine.

*Hearing Loss:
Occurs in 50% of the population with OI.
*Can be conductive, sensorineural, or mixed.

56
Q

What are the key features of Pendred syndrome?

A

*Inheritance: Autosomal recessive.

*Prevalence: Accounts for approximately 5-10% of hereditary hearing loss cases.

*Characteristics:
- Severe to profound sensorineural hearing loss (SNHL).
- Malformations of the vestibular system (e.g., enlarged vestibular aqueduct).
- Presence of a goitre (thyroid enlargement), often associated with thyroid dysfunction.

57
Q

What are the key features of Treacher Collins syndrome?

A

*Cause:
- Mutations in one of several genes.

*Prevalence:
- Occurs in approximately 1 in 50,000 newborns.

*Characteristics:
- Craniofacial abnormalities affecting the ears, eyes, cheekbones, and chin.

*Associated difficulties:
- Breathing problems.
- Vision impairments.
- Hearing loss caused by issues with the ossicles in the middle ear.
- Cleft palate.

*This syndrome primarily affects facial development and can lead to functional issues with hearing, breathing, and speech.

58
Q

What are Level 1 and Level 2 investigations for HL?

A

*Level 1 Investigations:

1- Clinical history and examination.
2- Family and developmental history.
3 - Urine examination (e.g., haematuria, proteinuria).
4 - Blood testing (e.g., serology for infections like CMV, syphilis, HIV).
5 - Imaging:
+MRI for sensorineural HL.
+CT for conductive HL.
+Both for meningitis-related HL.

*Level 2 Investigations:

1 - Genetic testing:
+Identify mutations (e.g., Connexin 26, DFNB1).
+Chromosomal studies for suspected syndromes.
2 - Vestibular investigations for balance issues.
3 - Ophthalmic assessment for visual problems.
4 - Renal ultrasound for kidney abnormalities.
5 - Thyroid function testing (linked to goitre or syndromes like Pendred).

59
Q

what are the Sections Required for History Taking

A

1 - Clinical History:
*Onset, duration, and progression of hearing loss.
*Speech and language development (expressive, receptive, play skills).
*Balance issues (dizziness or unsteadiness).
*Tinnitus or hyperacusis.

2 - Antenatal History:
*Exposure to alcohol, drugs, or diabetes during pregnancy.
*Medication or infections (e.g., rubella, toxoplasmosis).

3 - Birth History:
*Prematurity, low birth weight, or complications during delivery.
*Neonatal issues (e.g., jaundice, ventilation, NICU stay).

4 - Postnatal History:
*Neonatal sepsis, ototoxic medication, meningitis, or head injuries.
*Developmental milestones (delays or normal progression).

5 - Family History:
*History of hearing loss, consanguinity, or genetic syndromes.

6 - Medical History:
*History of accidents, infections (e.g., meningitis), or otological conditions.
*Use of ototoxic medications or exposure to radiation.

7 - Educational and Social Context:
*Impact of hearing loss on schooling and social interactions.

60
Q

Contraindications to Consider during history taking?

A

1- Age-Appropriate Testing:
Avoid tests unsuitable for the child’s age or developmental level (e.g., too complex for young children).

2 - Medical Instability:
Postpone testing if the child is acutely unwell or unstable.

3 - Physical or Emotional Distress:
*Avoid procedures that may cause significant distress without adequate support or preparation.

4 - Allergies or Adverse Reactions:
*Consider potential contraindications for medications or imaging contrast agents.

5 - Parent/Guardian Consent:
*Ensure parents are informed and give consent for all investigations.

6 - Inappropriate Test Conditions:
*Ensure the environment is suitable for testing (e.g., quiet room for audiological assessments).

61
Q

What are some common places you can get referrals from?

A

-GP
-Health visitor
- Speech and language therapist
-Paediatrician
-ENT

Paediatrics (10 decks)

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