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Question 1
Incorrect
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A 6-year-old girl is brought to see her General Practitioner by her father, having recently moved to the area. She has been undergoing specialist investigation and requires transfer of her care to the local hospital. The current working diagnosis is Lennox–Gastaut syndrome. Her father explains that her symptoms started following an admission with meningitis, aged four.
Which of the following symptoms is most typically a feature of Lennox–Gastaut syndrome?
Your Answer:
Correct Answer: Different seizure types
Explanation:Understanding Lennox-Gastaut Syndrome: A Seizure Disorder with Multiple Types of Seizures
Lennox–Gastaut syndrome is a seizure disorder that is characterized by multiple seizures of various types on a daily basis. The disorder can be caused by a range of factors, including encephalitis, meningitis, brain malformations, birth injury, frontal lobe lesions, and trauma. It is estimated that the prevalence of Lennox–Gastaut syndrome is about 2 per 10,000, accounting for approximately 3% of all childhood cases of epilepsy. The onset of the disorder typically occurs before the age of eight, with a peak between the ages of three and five years. While epilepsy may improve over time, complete resolution of seizures is rare, and mental and psychiatric disorders tend to worsen with age. Polytherapy is often required to manage the condition.
Adolescent Behavioral Issues
Behavioral problems may be present in young children with Lennox–Gastaut syndrome. As children grow older, they may experience personality problems, acute psychotic episodes, or chronic psychosis.
Normal Cognition
Abnormalities in higher cognitive function are typically present in individuals with Lennox–Gastaut syndrome, consistent with intellectual disability.
Normal Early Psychomotor Development
Normal psychomotor development only occurs in idiopathic cases, which make up only about 25% of the total.
Partial Seizures
While partial seizures may occur in Lennox–Gastaut syndrome, there is usually a mix of different seizure types, with partial seizures being less common than others.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 2
Incorrect
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Which of the following is not a recognized feature of temporal arteritis in elderly patients?
Your Answer:
Correct Answer: Elevated creatine kinase
Explanation:Temporal arteritis doesn’t cause an increase in creatine kinase levels.
Temporal arteritis is a type of large vessel vasculitis that often occurs in patients over the age of 60 and is commonly associated with polymyalgia rheumatica. This condition is characterized by changes in the affected artery that skip certain sections while damaging others. Symptoms of temporal arteritis include headache, jaw claudication, and visual disturbances, with anterior ischemic optic neuropathy being the most common ocular complication. A tender, palpable temporal artery is also often present, and around 50% of patients may experience symptoms of PMR, such as muscle aches and morning stiffness.
To diagnose temporal arteritis, doctors will typically look for elevated inflammatory markers, such as an ESR greater than 50 mm/hr or elevated CRP levels. A temporal artery biopsy may also be performed to confirm the diagnosis, with skip lesions often being present. Treatment for temporal arteritis involves urgent high-dose glucocorticoids, which should be given as soon as the diagnosis is suspected and before the temporal artery biopsy. If there is no visual loss, high-dose prednisolone is typically used, while IV methylprednisolone is usually given if there is evolving visual loss. Patients with visual symptoms should be seen by an ophthalmologist on the same day, as visual damage is often irreversible. Other treatments may include bone protection with bisphosphonates and low-dose aspirin, although the evidence supporting the latter is weak.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 3
Incorrect
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A 12-year-old girl with profound learning disabilities is brought to her General Practitioner for her annual review. She is non-verbal and requires help with all personal care. She has recently moved into a care home and is accompanied by an experienced carer. She raises concerns that the patient might be depressed, as she has noticed behaviours common to other depressed patients in her care.
Which of the following features of depression is most likely to present in someone with a moderate-to-severe learning disability?Your Answer:
Correct Answer: Psychomotor retardation
Explanation:Identifying Depression in Individuals with Learning Disabilities
Individuals with learning disabilities may present with symptoms of depression, including psychomotor retardation, disturbed sleep, loss of appetite, loss of weight, and diurnal variation in symptoms. The Glasgow Depression Scale for learning disabilities and the Glasgow Depression Scale carer’s supplement can be used to assess these symptoms. However, some criteria for depression, such as feelings of worthlessness or guilt, may be difficult to assess without a certain level of developmental comprehension and communication. Lack of concentration and subjective reduction in energy may also be present. Suicidal ideation is challenging to assess in individuals with limited conceptual and language skills, and physical or behavioral cues may be the only indicators of depression.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 4
Incorrect
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A 10-year-old boy with Down syndrome is brought in by his parents for his yearly check-up. He has recently visited the optometrist. What is the most common ophthalmological abnormality that is likely to be detected in a child with Down syndrome? Choose ONE answer.
Your Answer:
Correct Answer: Refractive error
Explanation:Common Ophthalmological Abnormalities in Children with Down Syndrome
Children with Down syndrome are more likely to experience refractive errors, with up to 80% of them affected. However, it can be challenging to identify signs of this condition in children who may have difficulty expressing themselves. Cataracts are not common in childhood Down syndrome, but glaucoma is slightly more prevalent than in the general population. Nystagmus occurs in 10% of cases, while squint affects 20% of children with Down syndrome. While these conditions are relatively common, it is essential to monitor and manage them to prevent further complications.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 5
Incorrect
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A 55-year-old man comes to see you along with a support worker. He has a background of Down syndrome and cardiac surgery as a child. He sometimes struggles to communicate with others but can do this with help from his support worker.
He has been having rectal bleeding, abdominal pain, and looser stools for four months. He has a normal abdominal examination but refuses a per rectum (PR) examination.
You want to make an urgent 2-week-wait referral for a colonoscopy, but he says that he doesn't want any more tests.
You explain that the test is for cancer, from which he could die if not treated. After discussing this for some time, he tells you that he doesn't want to have any tests done at all, even if this meant he were to die.
What would be the most appropriate action?Your Answer:
Correct Answer: Agree not to request a colonoscopy
Explanation:Capacity Assessment and Decision Making: A Case Study
In this case study, a man has been presented with the option of undergoing a colonoscopy. However, he has the capacity to refuse the test and has demonstrated his ability to understand the relevant information, weigh it up, and communicate his decision. It is important to consider whether his capacity is fluctuating and whether the decision can wait until capacity returns. Additionally, even if a person lacks capacity for one decision, it doesn’t mean they lack capacity for all decisions.
Booking him in with another GP for a second opinion would not be necessary and could be distressing for him. A further capacity assessment is also not necessary as he has already demonstrated his capacity to make this decision. Ignoring his capacity and requesting the investigation regardless would be incorrect.
Finally, an independent mental-capacity advocate (IMCA) is not required in this scenario as the man has the necessary support to make his decision and is able to represent himself. It is important to involve the person in the decision-making process, even if they lack capacity, and to assess capacity on a case-by-case basis.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 6
Incorrect
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A 5-year-old healthy girl is brought to the general practice surgery by her parents, who are concerned about some darker skin patches they have noticed on her arms, legs and back. They think that these have been present since she was a small baby, but they seem more noticeable. They have counted six in total.
On examination, you observed several hyperpigmented macules with sharp borders and variable diameter: these are seen on the limbs, abdomen and lower back. You also observe some freckly pigmentation under both arms.
What is the most likely diagnosis?Your Answer:
Correct Answer: Neurofibromatosis type 1 (NF1)
Explanation:Distinguishing Neurofibromatosis Type 1 from Other Skin Conditions
Neurofibromatosis type 1 (NF1) is a genetic disorder that causes lesions in the skin, nervous system, and skeleton. It is typically diagnosed in children under the age of 8, with 80% of cases being identified by age 6. To diagnose NF1, at least two of seven criteria must be met, including the presence of café au lait macules, cutaneous/subcutaneous neurofibromas, axillary or groin freckling, optic pathway glioma, Lisch nodules, bony dysplasia, or a first-degree relative with NF1.
Other skin conditions can be mistaken for NF1, including acanthosis nigricans, childhood lentigines, Sturge-Weber syndrome (SWS), and tuberous sclerosis. Acanthosis nigricans is characterized by dark, velvety discolouration in the body’s folds and creases, but lacks cafĂ© au lait spots. Childhood lentigines are related to sun exposure and occur in sun-exposed areas, whereas NF1 patches develop on the legs, arms, and back. SWS presents with a port-wine stain affecting the facial skin, vascular eye abnormalities, and ipsilateral occipital leptomeningeal angiomas, which are not seen in NF1. Tuberous sclerosis is characterized by ash leaf macules and shagreen patches, which have a rough orange peel appearance, but are not present in NF1. Accurate diagnosis is crucial for appropriate management and treatment of these conditions.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 7
Incorrect
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In your practice area there is sheltered accommodation for a small number of young adults with general learning disability.
Which of the following is the correct statement concerning general learning disability?
Your Answer:
Correct Answer: Expressive language skills may be better than receptive skills
Explanation:Understanding General Learning Disability: Causes, Symptoms, and Management
General learning disability is a condition characterized by incomplete or arrested development of the mind, which is evident from childhood. This term is now recommended in the United Kingdom to replace outdated terms such as mental handicap and mental retardation. The majority of patients have mild learning disability, with an Intelligence Quotient (IQ) of 50-70. The causes of this condition are varied, including genetic, metabolic, and events during pregnancy, childbirth, and the postnatal period. Patients with general learning disability often have associated physical, psychological, and behavioral problems.
Psychotropic drugs are commonly used to manage behavioral problems, but they are rarely beneficial. Before resorting to medication, doctors should first check for any sources of discomfort, such as earache or toothache. When communicating with patients, it is important to address them directly and obtain as much history as possible from them. However, doctors should also be aware that there may be incongruence between receptive and expressive verbal skills, and patients may not fully understand the questions being asked.
Most adults with general learning disability have limited economic opportunities. It is important to understand this condition and provide appropriate support and management to improve the quality of life for patients and their families.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 8
Incorrect
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A woman in her 30s undergoes serum alpha feto-protein level testing during pregnancy. What is the correlation between a low alpha-feto protein level and this condition?
Your Answer:
Correct Answer: Down's syndrome
Explanation:AFP levels are elevated in cases of neural tube defects and reduced in individuals with Down’s syndrome.
Alpha-fetoprotein (AFP) is a protein that is created by the fetus during its development. When the levels of AFP are higher than normal, it may indicate the presence of certain conditions such as neural tube defects (meningocele, myelomeningocele and anencephaly), abdominal wall defects (omphalocele and gastroschisis), multiple pregnancy, Down’s syndrome, trisomy 18, and maternal diabetes mellitus. On the other hand, decreased levels of AFP may also be significant and should be further investigated.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 9
Incorrect
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A family brings their 3-year-old child to the clinic, worried that he may have autism as they notice he is not progressing or engaging as much as their other children and his peers.
Which of the following characteristics is indicative of an autism diagnosis?Your Answer:
Correct Answer: Gaze avoidance
Explanation:Understanding Autism
Children with autism often exhibit certain behaviors that set them apart from their peers. They tend to avoid eye contact and struggle to form attachments with others outside of their immediate family. As toddlers, they may not point or respond normally to painful stimuli. Instead, they may show a strong attachment to certain objects or have an intense fear of everyday household tasks. For example, vacuuming may cause them to scream uncontrollably. These behaviors are all hallmarks of autism and can make it difficult for children to navigate the world around them. By understanding these behaviors, we can better support and care for children with autism.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 10
Incorrect
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A 35-year-old woman with severe and resistant schizophrenia presents to your clinic. She also has a learning disorder but insists that she always remembers to take her medications. Upon examination, you notice that she appears pale, prompting you to order a full blood count. The following day, the lab informs you that she has neutropenia.
As you wait for her medical records, you begin to consider whether one of her medications could be responsible for the neutropenia.
Which of the following drugs is the most likely culprit?Your Answer:
Correct Answer: Clozapine
Explanation:Clozapine Monitoring Requirements
Clozapine is a medication commonly used to treat schizophrenia that is resistant to conventional antipsychotics. However, it is known to cause neutropaenia, a condition where the body has a low level of neutrophils, a type of white blood cell that fights infection. Therefore, patients taking clozapine need to be carefully monitored.
Before starting treatment with clozapine, leucocyte and differential blood counts must be normal. The prescribing doctor is responsible for ensuring that full blood counts are monitored regularly. The British National Formulary recommends monitoring FBC weekly for 18 weeks, then at least every 2 weeks. If the count has been stable for a year, the frequency can be extended to four weekly.
If a patient taking clozapine presents with signs of acute infection, such as a flu-like illness, it is important to be aware of the significance of the medication and its potential impact on the patient’s neutrophil count.
An audit of patients taking clozapine at a practice could be conducted to assess how many have recorded pre-treatment FBCs, who issues the prescriptions, and how often they are monitored. This information can help ensure that patients taking clozapine are receiving appropriate monitoring and care.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 11
Incorrect
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A 15-year-old boy with Down's Syndrome and his guardian visit their General Practitioner for a check-up as the boy has been struggling with his schoolwork. What are the National Institute for Health and Care Excellence's recommendations for annual health checks for individuals with a learning disability by General Practitioners?
Your Answer:
Correct Answer: Current health interventions should be reviewed
Explanation:Importance of Annual Physical Health Checks for People with Learning Disabilities
The National Institute for Health and Care Excellence recommends that people with learning disabilities should receive an annual physical health check in all settings. This check should be carried out using a standardised template, such as the Welsh health check template, and should include a review of any known or emerging challenging behaviour and how it may be linked to any physical health problems.
The physical health review should also include a review of current health interventions, including medication and related side effects, drug interactions, and adherence. An agreed and shared care plan for managing any physical health problems, including pain, should also be developed.
It is important to note that the annual physical health check should be carried out together with a family member, carer, healthcare professional, or social care practitioner who knows the person. This is to ensure that the patient receives the best possible care and that any physical health problems are identified and managed appropriately.
In conclusion, annual physical health checks are crucial for people with learning disabilities to ensure that any physical health problems are identified and managed appropriately. It is important that healthcare professionals follow the recommended guidelines and carry out these checks in all settings.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 12
Incorrect
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A 25-year-old woman has a significantly reduced ability to understand new or complex information, and a reduced ability to cope independently. There is evidence that she has had such problems since an early age.
Which term is currently used in the UK to describe this patient’s impairment?Your Answer:
Correct Answer: Learning disability
Explanation:Understanding Different Terms for Cognitive Impairments
There are various terms used to describe cognitive impairments, but it is important to use the correct terminology to avoid confusion and stigma.
A learning disability refers to a long-term reduced ability to cope independently or process new or complex information. It is important to seek specialist input for assessment and support if a learning disability is suspected.
An intellectual disability is a general impairment that affects a person’s overall functioning. However, the correct term to use is still learning disability.
A learning difficulty, such as dyslexia, doesn’t impair a person’s general functioning.
The terms mental handicap and mental sub normality are outdated and no longer used in clinical practice. It is important to use respectful and accurate language when discussing cognitive impairments.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 13
Incorrect
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A 5-year old healthy girl is brought to the General Practice Surgery by her parents who are concerned about some darker skin patches they have noticed on her legs, arms and back. They think they have been present since she was a small baby but seem to be more noticeable over the last few months. They have counted six in total.
On examination, you observe several hyperpigmented macules with a sharp border and variable diameter on the limbs, abdomen and lower back. You believe these to be café au lait spots. She also has some freckly pigmentation under both arms.
What is the most likely diagnosis?Your Answer:
Correct Answer: Neurofibromatosis type 1 (NF1)
Explanation:Neurofibromatosis type 1 (NF1) is a genetic disorder that causes lesions in the skin, nervous system, and skeleton. It is usually diagnosed in children under the age of eight, with 80% of cases being identified by age six. The condition is characterized by the presence of café au lait spots, which are hyperpigmented macules with a sharp border and a diameter of over 0.5 cm in children or 1.5 cm in adults. To be diagnosed with NF1, a patient must have at least two of the following seven presentations: six or more café au lait macules, two or more cutaneous/subcutaneous neurofibromas or one plexiform neurofibroma, axillary or groin freckling, optic pathway glioma, two or more Lisch nodules, bony dysplasia, or a first-degree relative with NF1. Other skin conditions, such as acanthosis nigricans, childhood lentigines, Sturge-Weber syndrome, and tuberous sclerosis, have different symptoms and are not associated with café au lait spots.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 14
Incorrect
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A 56-year-old man with a history of a learning disability, hypertension, ischaemic heart disease, and chronic obstructive pulmonary disease (COPD) is admitted to hospital and subsequently dies.
What is the most common cause of death in people with a learning disability?Your Answer:
Correct Answer: Circulatory disease
Explanation:Common Causes of Death in People with Learning Disabilities
People with learning disabilities are at a higher risk of premature death compared to the general population. The most common cause of death in this group is circulatory or cardiovascular disease, accounting for 22.9% of deaths. Regular health check-ups can help promote long-term health and prevent such diseases.
Cancer is another major cause of death, responsible for 13.1% of deaths in people with learning disabilities. While it is a significant cause of death, it is not the most common.
Aspiration pneumonitis, a potentially preventable cause of death, accounts for 3.6% of deaths in people with learning disabilities. It is important to be aware of this cause of death and take necessary precautions to prevent it.
Epilepsy is responsible for 3.9% of deaths in people with learning disabilities. Like aspiration pneumonitis, it is a preventable cause of death, and awareness can help reduce the risk.
Respiratory disease is the second most common cause of death in people with learning disabilities, accounting for 17.1% of deaths. It is crucial to monitor and manage respiratory conditions in this population to prevent premature deaths.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 15
Incorrect
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A 4-week-old baby boy is brought to the general practice surgery for his routine 4-week health check. He was born at full term and seems very well. His mother is anxious, as she has two other children with learning disabilities.
Which of the following examination findings is most likely to help reassure the mother?Your Answer:
Correct Answer: Absence of a sacral dimple
Explanation:A sacral dimple, which may be present from birth, is usually harmless but can sometimes indicate spina bifida, a neural tube defect that can cause mobility or continence issues and learning disabilities. A family history of spina bifida increases the risk. An absent red reflex in a baby’s pupil may indicate a congenital cataract or retinoblastoma, but neither condition is known to cause learning disabilities. A head circumference between the 25th and 50th centiles is within the normal range and is reassuring, but serial measurements may reveal issues such as hydrocephalus. A positive Moro reflex at the 6-week check is normal, but persistent primitive reflexes beyond their expected timescales could indicate neurological issues such as cerebral palsy. Positive Barlow and Ortolani manoeuvres indicate developmental dysplasia of the hip, which is not associated with learning disabilities.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 16
Incorrect
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A 29-year-old woman visits her doctor to discuss her 2-year-old daughter, who has shown signs of developmental delay. She had delayed speech development, was a late walker, and is behind her peers in many areas.
The mother has been taking regular medication for bipolar disorder for the past seven years, which she has been told may have caused her daughter's issues. Currently, her mental health is stable, and she has no other diagnosed health conditions.
Which medication is the most likely culprit?Your Answer:
Correct Answer: Valproic acid
Explanation:Teratogenic Risks of Common Medications During Pregnancy
Valproic acid, commonly used as a mood stabilizer in bipolar disorder, is highly teratogenic with a 30-40% chance of neurodevelopmental problems and 10% risk of congenital malformations in newborns if taken during pregnancy. Olanzapine, an atypical antipsychotic, carries a risk of neonatal tremor and hypertonia if taken during the third trimester, but no known neurodevelopmental risks. Prochlorperazine, used for nausea and vomiting, may cause extrapyramidal side effects or withdrawal in newborns during the third trimester, but no neurodevelopmental issues are listed. Procyclidine, an anticholinergic medication, has no specific teratogenic warnings. Sertraline, a selective serotonin reuptake inhibitor for anxiety and depression, has a small risk of congenital heart defect but no neurodevelopmental issues. It is important for healthcare providers to consider these risks and provide appropriate counseling and monitoring for pregnant patients taking these medications.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 17
Incorrect
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A 12-year-old girl with a learning disability is brought to see her General Practitioner (GP) by her father. Her mother is very upset, and asked her father to bring her to see the GP as she spends a lot of time in her bedroom, and her mother has walked in many times and found her masturbating in her bed. There are no concerns about her behaviour at school.
Which of the following management steps would be most appropriate in primary care?Your Answer:
Correct Answer: Reassure the patient and father that this is normal adolescent behaviour
Explanation:Managing Adolescent Masturbation in Children with Learning Disabilities
It is not uncommon for adolescents with learning disabilities to engage in sexual behaviour, including masturbation. However, it is important to assess whether this behaviour is age-appropriate and not a cause for concern. In this case, as the child is masturbating privately and there are no reports of concerning behaviour from school or other services, reassurance to the patient and father that this is normal adolescent behaviour is appropriate. Referral to CAMHS, learning disability team, psychosexual counselling, or social services is not indicated at this time. It is important to use tools such as the Brook Traffic Light tool to identify normal age-appropriate sexualised behaviours and those which are a cause for concern.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 18
Incorrect
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A 32-year-old man with fragile X syndrome and asthma attends his annual health check.
Which of the following characteristics is most commonly seen in an adult male with fragile X syndrome? Choose ONE answer only.Your Answer:
Correct Answer: Mitral valve prolapse
Explanation:Common Health Issues in Adults with Fragile X Syndrome
Fragile X syndrome is a genetic disorder that can cause various health issues in affected individuals. Here are some common health issues that may be found in adult males with fragile X syndrome:
Mitral Valve Prolapse: This condition occurs in about 80% of adult males with fragile X syndrome and can also be associated with aortic-root dilatation. It is caused by connective-tissue disorders.
Gastro-oesophageal Reflux: While this is common among children with fragile X syndrome, it is less common in adults.
Infertility: Women with fragile X syndrome are more likely to have premature ovarian failure, but males with the condition are likely to have normal fertility.
Recurrent Otitis Media: This is a common issue that can cause hearing loss and worsen learning difficulties, but it is not the most likely feature to be found in adult males with fragile X syndrome.
Seizures: Seizures occur in 20-30% of males with fragile X syndrome, but they are less common in adulthood.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 19
Incorrect
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A 38-year-old man with learning disabilities presents to his General Practitioner for review. He is accompanied by a carer from his residential home, who is new to the home and doesn't know him very well. He was recently discharged from hospital. He has his annual review and blood tests are attempted but rebooked when he becomes distressed.
Which of the following is most likely to be true of this patient, compared to an age-matched population?
Your Answer:
Correct Answer: Inactive lifestyle
Explanation:The Health Risks and Inequalities Faced by People with Learning Disabilities
People with learning disabilities often live in residential care homes or supported living, leading to an inactive lifestyle. This, along with a greater risk of health problems, can lead to a higher incidence of mental health issues, which are often undiagnosed due to communication difficulties. Additionally, social inequality and poverty can exacerbate health problems, including a higher risk of cardiovascular disease and premature death. It is important to address these health risks and inequalities faced by people with learning disabilities.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 20
Incorrect
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A 32-year-old patient is newly registered at a General Practice Surgery. The General Practitioner notes that the patient has previously been under the care of a Community Team but has not had a health check for three years. Her father states that she had been experiencing some vomiting for one month, but this is currently being managed symptomatically with cyclizine, as a change in location causes her distress and disorientation.
Which of the following is the best management option for this patient?
Your Answer:
Correct Answer: Encourage annual health checks to identify serious conditions
Explanation:Improving Healthcare for People with Learning Disabilities
People with learning disabilities often face barriers when accessing mainstream healthcare services. However, introducing health checks specifically for this group has led to the identification of previously undetected health conditions, including serious and life-threatening ones such as cancer, heart disease, and dementia. It is important to assess both physical and mental health, and medication should only be given with the patient’s consent or following a best interest decision. Medication should not be used as the sole treatment for challenging behavior without a proper assessment and clear reason for its use. Doctors should provide the same level of care to all patients, without making assumptions about quality of life or the appropriateness of medical and social care interventions. However, patients with learning disabilities may be exempt from national screening programs due to low uptake. Referral to a Community Learning Disability Team can also facilitate access to mainstream services and provide specialist assessment and intervention for issues such as challenging behavior and mental health problems.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 21
Incorrect
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A 35-year-old gentleman with Down's syndrome reports low mood and lethargy for the past three months. He reports no thoughts of self-harm and has a supportive network of family and friends. There are no obvious social triggers for his new symptoms. He still enjoys his regular trips to the day centre and watching movies.
Which is the SINGLE MOST appropriate NEXT management step?Your Answer:
Correct Answer: Blood tests including TFTs
Explanation:Hypothyroidism and Low Mood in Down’s Syndrome
Although routine investigations are not necessary for individuals with low mood, it is important to note that the prevalence of hypothyroidism is increased in people with Down’s syndrome. This condition can manifest with nonspecific symptoms such as lethargy and low mood, or it may be asymptomatic. Therefore, it may be necessary to conduct investigations to rule out hypothyroidism as a potential cause of low mood in individuals with Down’s syndrome.
There are no apparent safeguarding concerns or reasons to breach confidentiality in this situation. However, if investigations are normal, it is still possible that the individual is experiencing depression. In such cases, antidepressants, psychological therapy, and advice from psychiatry may be appropriate next steps. It is important to consider all potential causes of low mood in individuals with Down’s syndrome to ensure that they receive the appropriate care and support.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 22
Incorrect
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A 10-year-old girl is struggling with reading and it is suspected that she may have dyslexia. Which of the following characteristics is NOT typically linked to a diagnosis of dyslexia?
Your Answer:
Correct Answer: Low intelligence
Explanation:Understanding Dyslexia: A Reading Disorder with Developmental Implications
Dyslexia is a reading disorder that affects a significant portion of the population. It is characterized by an unexpected difficulty in learning to read despite adequate intelligence, motivation, and educational opportunities. While low intelligence can cause reading difficulties, dyslexia requires a reading ability that is substantially below what is expected for the person’s age and measured intelligence. It is estimated that 4% of the population has severe dyslexia, while an additional 6% have mild to moderate dyslexia.
Children with dyslexia may also experience developmental problems with expressive language, receptive language, or both. Additionally, about half of those with dyslexia also have dyscalculia, which is difficulty acquiring arithmetical skills. Children with a reading disorder are twice as likely as other children to have ADHD, and children with ADHD are twice as likely to have a reading disorder. Dyspraxia, which is difficulty in activities requiring coordination and movement, is also more common in children with dyslexia.
Overall, understanding dyslexia is crucial for identifying and addressing the developmental implications that come with this reading disorder.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 23
Incorrect
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A teenager is brought to the General Practitioner by his mother for a check-up. She states that a relative has recently been diagnosed with fragile X syndrome and she asks whether her son is likely to have the same condition.
Which of the following is most likely to first lead to a suspicion of this condition in this patient?Your Answer:
Correct Answer: Delayed developmental milestones
Explanation:Understanding Fragile X Syndrome: Symptoms and Prevalence
Fragile X syndrome is a genetic condition that affects intellectual development, particularly in boys. It is caused by a mutation in the FMR1 gene on the X chromosome and is inherited in an X-linked dominant pattern. A UK screening study estimated a prevalence of 2.3/10,000 in the population.
Symptoms of fragile X syndrome can be difficult to diagnose in infancy, but delays in gross motor development and speech and language skills are common. Autism is also frequently diagnosed in patients with fragile X syndrome. In later childhood, affected males may have a distinct craniofacial appearance and learning difficulties may become more apparent in school. Seizures are also a common symptom, particularly in male patients.
Early diagnosis and DNA testing can confirm the presence of fragile X syndrome. Understanding the symptoms and prevalence of this condition can help healthcare professionals provide appropriate care and support for affected individuals and their families.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 24
Incorrect
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A 16-year-old girl with a learning disability has been exhibiting aggressive behavior without any identifiable physical, psychological, or environmental triggers. Despite attempts at behavioral interventions, there has been no improvement. Recently, she attacked one of her caregivers, causing concern for their safety. The caregivers are considering medication as a possible solution. Which medication would be the most suitable option?
Your Answer:
Correct Answer: Olanzapine
Explanation:Antipsychotic and Melatonin Medications for People with Learning Disabilities and Autism
Concerns about the overuse of antipsychotic and antidepressant medications in people with learning disabilities and/or autism have been raised. Instead, a full assessment of physical, psychological, and environmental factors should be conducted when a person presents with challenging behavior. Psychological and behavioral interventions should be considered first.
The National Institute for Health and Care Excellence recommends that antipsychotic medication should only be used if other interventions do not produce change within an agreed time, treatment for coexisting mental or physical health problems has not led to a reduction in behavior, or the risk to the person or others is severe. Olanzapine is the only antipsychotic medication offered in the option list, but other antipsychotic drugs may also be appropriate. Antipsychotic medication should only be offered in combination with psychological or other interventions and initiated by a specialist.
Melatonin, a pineal hormone that affects sleep patterns, may be of value for treating sleep-onset insomnia and delayed sleep phase syndrome in children with conditions such as visual impairment, cerebral palsy, attention deficit hyperactivity disorder, autism, and learning difficulties if behavioral measures fail. Clinical experience supports this use.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 25
Incorrect
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A father brings his 6-year-old son to see you as he is concerned that he is not developing as expected. He believes his child may have a learning difficulty.
Which of the following is one of the three core criteria for a diagnosis of learning disability according to the National Institute for Health and Care Excellence (NICE)?Your Answer:
Correct Answer: Onset before adulthood
Explanation:Defining Learning Disability: Key Criteria to Consider
Learning disability is a complex condition that affects individuals in various ways. To diagnose a learning disability, several key criteria must be considered. These criteria include onset before adulthood, a recognised syndrome, concurrent neurological deficit, lower intellectual ability, and impaired social functioning.
Onset before adulthood is a crucial factor in diagnosing a learning disability. If a cognitive or behavioural impairment starts in adulthood, it is more likely to be caused by an alternative neurological condition. A recognised syndrome is not always present in individuals with a learning disability, and the cause may not be known.
While many people with a learning disability do not have a neurological deficit, they have a higher incidence of neurological conditions such as epilepsy. Lower intellectual ability is a core criterion for diagnosing a learning disability, with an IQ usually less than 70. Finally, impaired social functioning is a key feature of learning disability.
In conclusion, understanding the key criteria for diagnosing a learning disability is essential for healthcare professionals and caregivers. By recognising these criteria, individuals with learning disabilities can receive the appropriate support and interventions to help them reach their full potential.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 26
Incorrect
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A 50-year-old woman with Down syndrome has started exhibiting increased stubbornness, irritability, and withdrawal. Additionally, her caregivers have noticed some recent memory loss. What is the most probable diagnosis?
Your Answer:
Correct Answer: Dementia
Explanation:Understanding the Causes of Behavioural Changes and Memory Problems in People with Down Syndrome
People with Down syndrome are at a significantly higher risk of developing dementia, which can lead to memory impairment as well as personality and behavioural changes. While sensory changes such as deafness or visual deterioration could also contribute to these behavioural changes, the history of memory problems and the higher incidence of dementia make it the more likely cause. Other potential factors, such as depression or hypothyroidism, should be considered as differentials but may not fully explain the observed symptoms. Therefore, it is important to monitor and address the cognitive and emotional health of individuals with Down syndrome, and to provide appropriate support and care as needed.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 27
Incorrect
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A 3-year-old boy who recently immigrated to the United Kingdom is brought to the General Practitioner. Examination reveals developmental delay, congenital heart disease, growth retardation and dysmorphic facial features. Williams’ syndrome is suspected.
Which of the following abnormalities is most likely to be present in this child?
Your Answer:
Correct Answer: Hypercalcaemia
Explanation:Understanding Williams Syndrome: A Rare Genetic Disorder with Various Physical and Mental Impacts
Williams syndrome, also known as infantile hypercalcaemia, is a rare genetic disorder that can affect brain development to varying degrees. While it is an autosomal dominant disease, the majority of cases occur at random. Physical symptoms of Williams syndrome include lack of coordination, slight muscle weakness, heart defects, occasional kidney damage, and corneal opacities. Attention deficit disorder is also commonly present. Additionally, subclinical hypothyroidism is frequently present but usually remains stable.
One of the most significant concerns for individuals with Williams syndrome is the high prevalence of impaired glucose tolerance and diabetes mellitus in young adults. Treatment for hypercalcaemia may include diet modification, oral corticosteroids, and/or intravenous pamidronate. It is important to note that children with Williams syndrome should not be given multivitamins because paediatric preparations all contain vitamin D.
Long-term morbidity for individuals with Williams syndrome is mainly due to mental handicap and arteriopathy. However, hypertension, kyphoscoliosis, and obesity are also common. It is crucial for individuals with Williams syndrome to receive proper medical care and support to manage their symptoms and improve their quality of life.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 28
Incorrect
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A 6-year-old boy is brought by his mother to see his General Practitioner following increasing concern about his behaviour at home and in school. His teacher has suggested that he is showing signs of a learning disability. He was diagnosed with epilepsy when he was three years of age. On examination, some abnormal findings were observed. You suspect tuberous sclerosis.
Which of the following examination findings would support the diagnosis of tuberous sclerosis?Your Answer:
Correct Answer: Ungual fibromas
Explanation:Differentiating Tuberous Sclerosis from Other Genetic Conditions
Tuberous sclerosis is a genetic condition that causes non-cancerous overgrowths of tissue in multiple organs, including the skin, brain, eyes, kidneys, and heart. One of the common skin signs of tuberous sclerosis is the presence of flesh-colored papules in or around the nail bed, known as ungual fibromas. However, it is important to differentiate tuberous sclerosis from other genetic conditions that may present with similar features.
Ataxia, increased tone, and jerky movements are features of Angelman syndrome, which is caused by a chromosomal abnormality and also causes learning disabilities and developmental delay. Brushfield spots, white/grey spots seen on the periphery of the iris, are a feature of Down syndrome, along with a single palmar crease, hypotonia, short neck, and epicanthic folds. Fragile X syndrome, an X-linked dominant condition, is associated with typical facial features such as a large head, long face, prominent forehead, chin, and ears, as well as learning disability, seizures, hyperextensible joints, and behavioral problems. Cri-du-chat syndrome, a chromosomal abnormality, is associated with a high-pitched cry, typical facial features, learning disability, and developmental delay, including microcephaly with orbital hypertelorism.
Therefore, a thorough evaluation of clinical features and genetic testing is necessary to accurately diagnose and differentiate tuberous sclerosis from other genetic conditions.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 29
Incorrect
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The parents of a 7-year-old child diagnosed with autism are concerned about the potential impact on their child's overall health. They have heard that autism may be associated with various medical issues. Which of the following characteristics is not more prevalent in a child with autism than in the general population? Choose only ONE option.
Your Answer:
Correct Answer: Coeliac disease
Explanation:Common Co-Occurring Conditions in Children with Autism
Children with autism often experience co-occurring conditions that can impact their overall health and well-being. While some parents have reported success with a gluten-free diet for their child’s autism symptoms, there is no solid evidence to support this approach. Additionally, children with autism may also have ADHD, epilepsy, and sensory impairments such as hearing or vision impairment. It’s important for parents and caregivers to be aware of these potential co-occurring conditions and work with healthcare professionals to address them appropriately.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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Question 30
Incorrect
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A 42-year-old woman with a learning disability and communication difficulties seeks advice for heavy menstrual bleeding. She is accompanied by another woman who introduces herself as a support person, there to assist the patient in making her own decisions and promoting her independence.
What is the role of the accompanying woman in this scenario? Choose ONE answer.Your Answer:
Correct Answer: Patient advocate
Explanation:Different Roles in Healthcare: Patient Advocate, Carer, Chaperone, IMCA, and Attorney
In healthcare, there are various roles that individuals can take to support patients in different ways. One of these roles is that of a patient advocate, whose primary responsibility is to help patients communicate their views or decisions when they have difficulty doing so themselves. This role is independent and doesn’t involve making decisions on behalf of the patient.
Another role is that of a carer, who provides practical and emotional support to patients, often in a long-term capacity. A chaperone, on the other hand, acts as a witness during medical procedures to ensure the safety and comfort of both the patient and the practitioner.
An independent mental-capacity advocate (IMCA) is appointed to safeguard the rights of individuals who lack the capacity to make decisions for themselves. Finally, an attorney can be appointed by a patient to help them make decisions or make decisions on their behalf if they lack capacity.
Overall, these different roles play important and distinct functions in supporting patients in healthcare settings.
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This question is part of the following fields:
- Neurodevelopmental Disorders, Intellectual And Social Disability
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