Agonists and Antagonists in Pharmacology

In pharmacology, an agonist is a substance that binds to a receptor and triggers a biological response. On the other hand, an antagonist is a substance that blocks the effects of an agonist. A partial agonist produces a response but cannot produce the maximum response even at high doses.

Competitive antagonists bind to the receptor in a reversible way without affecting the biological response. They make the agonist appear less potent. Inverse agonists, on the other hand, have opposite effects from those of full agonists. They are not the same as antagonists, which block the effect of both agonists and inverse agonists.

Full agonists display full efficacy at a receptor. Some substances can act as an agonist at certain receptors and as an antagonist at others. Such a substance is called an agonist-antagonist. Understanding the differences between agonists and antagonists is crucial in drug development and treatment.

Functions of the Hypothalamus

The hypothalamus is a vital part of the brain that plays a crucial role in regulating various bodily functions. It receives and integrates sensory information about the internal environment and directs actions to control internal homeostasis. The hypothalamus contains several nuclei and fiber tracts, each with specific functions.

The suprachiasmatic nucleus (SCN) is responsible for regulating circadian rhythms. Neurons in the SCN have an intrinsic rhythm of discharge activity and receive input from the retina. The SCN is considered the body’s master clock, but it has multiple connections with other hypothalamic nuclei.

Body temperature control is mainly under the control of the preoptic, anterior, and posterior nuclei, which have temperature-sensitive neurons. As the temperature goes above 37ºC, warm-sensitive neurons are activated, triggering parasympathetic activity to promote heat loss. As the temperature goes below 37ºC, cold-sensitive neurons are activated, triggering sympathetic activity to promote conservation of heat.

The hypothalamus also plays a role in regulating prolactin secretion. Dopamine is tonically secreted by dopaminergic neurons that project from the arcuate nucleus of the hypothalamus into the anterior pituitary gland via the tuberoinfundibular pathway. The dopamine that is released acts on lactotrophic cells through D2-receptors, inhibiting prolactin synthesis. In the absence of pregnancy of lactation, prolactin is constitutively inhibited by dopamine. Dopamine antagonists result in hyperprolactinemia, while dopamine agonists inhibit prolactin secretion.

In summary, the hypothalamus is a complex structure that regulates various bodily functions, including circadian rhythms, body temperature, and prolactin secretion. Dysfunction of the hypothalamus can lead to various disorders, such as sleep-rhythm disorder, diabetes insipidus, hyperprolactinemia, and obesity.

An Overview of Anxiety Disorders

Anxiety disorders are a group of mental health conditions that are characterised by excessive and persistent feelings of fear, worry, and apprehension. There are several types of anxiety disorders, each with its own unique set of symptoms and diagnostic criteria.

Social phobia, also known as social anxiety disorder, is characterised by intermittent anxiety that is associated with specific social situations. Individuals with social phobia often feel the need to perform of fear being scrutinised in these situations, leading to avoidance as a maladaptive coping strategy.

Generalised anxiety disorder, on the other hand, is characterised by persistent free-floating anxiety that is not necessarily tied to any specific situation of trigger.

Paranoid personality disorder is not typically associated with anxiety as a key feature, although individuals with this condition may experience other symptoms such as suspiciousness and mistrust.

In contrast, paranoid schizophrenia may involve self-referential delusions, although the cognitive distortions seen in social phobia are not considered delusional.

Finally, specific phobia is a category of anxiety disorders that involves intense fear of anxiety in response to a specific object of situation, such as heights of spiders.

Maslow’s Hierarchy of Needs is a theory of motivation introduced by Abraham Maslow. The hierarchy consists of five levels, with the most basic needs at the bottom and the most advanced needs at the top. Maslow proposed that a person would only become concerned with the needs of a particular level when all the needs of the lower levels had been satisfied. The levels include physiological needs, safety needs, social needs, esteem needs, and self-actualization needs. Maslow also made a distinction between D-needs (deficiency needs) and B-needs (being needs), with B-needs allowing us to reach our full potential but only after D-needs have been satisfied. Later in life, Maslow expanded upon the model and included cognitive, aesthetic, and transcendence needs, resulting in an eight-staged model. The cognitive needs include knowledge and understanding, while aesthetic needs involve appreciation and search for beauty. Transcendence needs are motivated by values that transcend beyond the personal self.

Cytokinesis: The Final Stage of Cell Division

Cytokinesis is the final stage of cell division, where the cell splits into two daughter cells, each with a nucleus. This process is essential for the growth and repair of tissues in multicellular organisms. In mitosis, cytokinesis occurs after telophase, while in meiosis, it occurs after telophase I and telophase II.

During cytokinesis, a contractile ring made of actin and myosin filaments forms around the cell’s equator, constricting it like a belt. This ring gradually tightens, pulling the cell membrane inward and creating a furrow that deepens until it reaches the center of the cell. Eventually, the furrow meets in the middle, dividing the cell into two daughter cells.

In animal cells, cytokinesis is achieved by the formation of a cleavage furrow, while in plant cells, a cell plate forms between the two daughter nuclei, which eventually develops into a new cell wall. The timing and mechanism of cytokinesis are tightly regulated by a complex network of proteins and signaling pathways, ensuring that each daughter cell receives the correct amount of cytoplasm and organelles.

Overall, cytokinesis is a crucial step in the cell cycle, ensuring that genetic material is equally distributed between daughter cells and allowing for the growth and development of multicellular organisms.

Schizophrenia is a complex disorder that is associated with multiple candidate genes. No single gene has been identified as the sole cause of schizophrenia, and it is believed that the more genes involved, the greater the risk. Some of the important candidate genes for schizophrenia include DTNBP1, COMT, NRG1, G72, RGS4, DAOA, DISC1, and DRD2. Among these, neuregulin, dysbindin, and DISC1 are the most replicated and plausible genes, with COMT being the strongest candidate gene due to its role in dopamine metabolism. Low activity of the COMT gene has been associated with obsessive-compulsive disorder and schizophrenia. Neuregulin 1 is a growth factor that stimulates neuron development and differentiation, and increased neuregulin signaling in schizophrenia may suppress the NMDA receptor, leading to lowered glutamate levels. Dysbindin is involved in the biogenesis of lysosome-related organelles, and its expression is decreased in schizophrenia. DISC1 encodes a multifunctional protein that influences neuronal development and adult brain function, and it is disrupted in schizophrenia. It is located at the breakpoint of a balanced translocation identified in a large Scottish family with schizophrenia, schizoaffective disorder, and other major mental illnesses.

, coma, respiratory depression (rare)

Parietal Lobe Dysfunction: Types and Symptoms

The parietal lobe is a part of the brain that plays a crucial role in processing sensory information and integrating it with other cognitive functions. Dysfunction in this area can lead to various symptoms, depending on the location and extent of the damage.

Dominant parietal lobe dysfunction, often caused by a stroke, can result in Gerstmann’s syndrome, which includes finger agnosia, dyscalculia, dysgraphia, and right-left disorientation. Non-dominant parietal lobe dysfunction, on the other hand, can cause anosognosia, dressing apraxia, spatial neglect, and constructional apraxia.

Bilateral damage to the parieto-occipital lobes, a rare condition, can lead to Balint’s syndrome, which is characterized by oculomotor apraxia, optic ataxia, and simultanagnosia. These symptoms can affect a person’s ability to shift gaze, interact with objects, and perceive multiple objects at once.

In summary, parietal lobe dysfunction can manifest in various ways, and understanding the specific symptoms can help diagnose and treat the underlying condition.

Linguistic Development and Risk Factors for Delayed Speech and Language

The development of language skills is an important aspect of a child’s growth. The prelinguistic period, from birth to 12 months, is marked by crying, babbling, and echolalia. From 6 to 12 months, a child responds to their name and can differentiate between angry and friendly tones. By 18 to 24 months, a child can use up to 40-50 words, mainly nouns, and starts to combine words in short phrases. By 36 to 48 months, a child has a vocabulary of 900-1000 words, can use plurals and past tense, and can handle three-word sentences easily.

However, there are risk factors associated with delayed speech and language development. These include a positive family history, male gender, twins, lower maternal education, childhood illness, being born late in the family order, young mother at birth, and low socioeconomic status. of these, a positive family history is considered the most reliable risk factor. It is important to monitor a child’s language development and seek professional help if there are concerns about delayed speech and language.

Anabolic Steroids: Uses, Misuse, and Complications

Anabolic steroids are synthetic derivatives of testosterone that have both anabolic and androgenic properties. They are commonly used by athletes to enhance performance and by individuals to improve physical appearance. However, their misuse is not uncommon, with nearly half of users of dedicated bodybuilding gyms admitting to taking anabolic agents. Misuse can lead to dependence, tolerance, and the development of psychiatric disorders such as aggression, psychosis, mania, and depression/anxiety.

There are three common regimes practised by steroid misusers: ‘cycling’, ‘stacking’ and ‘pyramiding’. Anabolic steroids can be taken orally, injected intramuscularly, and applied topically in the form of creams and gels. Other drugs are also used by athletes, such as clenbuterol, ephedrine, thyroxine, insulin, tamoxifen, human chorionic Gonadotropin, diuretics, and growth hormone.

Medical complications are common and can affect various systems, such as the musculoskeletal, cardiovascular, hepatic, reproductive (males and females), dermatological, and other systems. Complications include muscular hypertrophy, increased blood pressure, decreased high-density lipoprotein cholesterol and increased low-density lipoprotein cholesterol, cholestatic jaundice, benign and malignant liver tumours, testicular atrophy, sterility, gynaecomastia, breast tissue shrinkage, menstrual abnormalities, masculinisation, male-pattern baldness, acne, sleep apnoea, exacerbation of tic disorders, polycythaemia, altered immunity, and glucose intolerance.

Anabolic steroids are a class C controlled drug and can only be obtained legally through a medical prescription. It is important to educate individuals about the risks and complications associated with their misuse and to promote safe and legal use.

ADHD medications can be classified into stimulant and non-stimulant drugs. The therapeutic effects of these drugs are believed to be mediated through the action of noradrenaline in the prefrontal cortex. Common side effects of these drugs include decreased appetite, insomnia, nervousness, headache, and nausea. Stimulant drugs like dexamphetamine, methylphenidate, and lisdexamfetamine inhibit the reuptake of dopamine and noradrenaline. Non-stimulant drugs like atomoxetine, guanfacine, and clonidine work by increasing noradrenaline levels in the synaptic cleft through different mechanisms. The most common side effects of these drugs are decreased appetite, somnolence, headache, and abdominal pain.

Antipsychotic drugs are known to cause weight gain, but some more than others. The reason for this is not due to a direct metabolic effect, but rather an increase in appetite and a decrease in activity levels. The risk of weight gain appears to be linked to clinical response. There are several suggested mechanisms for this, including antagonism of certain receptors and hormones that stimulate appetite. The risk of weight gain varies among different antipsychotics, with clozapine and olanzapine having the highest risk. Management strategies for antipsychotic-induced weight gain include calorie restriction, low glycemic index diet, exercise, and switching to an alternative antipsychotic. Aripiprazole, ziprasidone, and lurasidone are recommended as alternative options. Other options include aripiprazole augmentation, metformin, orlistat, liraglutide, and topiramate.

Modafinil: A Psychostimulant for Wakefulness and Attention Enhancement

Modafinil is a type of psychostimulant that is known to improve wakefulness, attention, and vigilance. Although it is similar to amphetamines, it does not produce the same euphoric effects and is not associated with dependence of tolerance. Additionally, it does not seem to cause psychosis. Modafinil is approved for the treatment of narcolepsy, obstructive sleep apnea, and chronic shift work. It is also suggested as an adjunctive treatment for depression by the Maudsley. Recently, it has gained popularity as a smart drug due to its potential to enhance cognitive functioning in healthy individuals.

Neuroimaging techniques can be divided into structural and functional types, although this distinction is becoming less clear as new techniques emerge. Structural techniques include computed tomography (CT) and magnetic resonance imaging (MRI), which use x-rays and magnetic fields, respectively, to produce images of the brain’s structure. Functional techniques, on the other hand, measure brain activity by detecting changes in blood flow of oxygen consumption. These include functional MRI (fMRI), emission tomography (PET and SPECT), perfusion MRI (pMRI), and magnetic resonance spectroscopy (MRS). Some techniques, such as diffusion tensor imaging (DTI), combine both structural and functional information to provide a more complete picture of the brain’s anatomy and function. DTI, for example, uses MRI to estimate the paths that water takes as it diffuses through white matter, allowing researchers to visualize white matter tracts.

Blocq’s disease, also known as astasia-abasia, is a conversion symptom characterized by an abnormal gait that is not indicative of any organic lesion. Hypochondriasis is excessive worry about having a serious illness despite the absence of a medical condition. Malingering involves fabricating symptoms for secondary gain, while somatization is a chronic condition with multiple physical complaints for which no physical cause can be found and is associated with frequent medical contact.

The Dunning-Kruger effect refers to a phenomenon where individuals with limited skills of knowledge tend to overestimate their abilities, leading them to believe they are more competent than they actually are.

The Flynn Effect is the term used to describe the increase in standardised intelligence test scores over time. Research conducted by Flynn showed that IQ scores increased by 13.8 points between 1932 and 1978, which equates to a 0.3-point increase per year of approximately 3 points per decade. More recent studies have also supported the Flynn effect, with IQ score gains observed between 1972 and 2006. This means that an individual is likely to achieve a higher IQ score on an earlier version of a test than on the current version. In fact, the test will overestimate an individual’s IQ score by an average of 0.3 points per year between the year in which the test was normed and the year in which the test was administered.

A fenestrated cavum septum pellucidum is linked to dementia pugilistica.

Dementia Pugilistica: A Neurodegenerative Condition Resulting from Neurotrauma

Dementia pugilistica, also known as chronic traumatic encephalopathy (CTE), is a neurodegenerative condition that results from neurotrauma. It is commonly seen in boxers and NFL players, but can also occur in anyone with neurotrauma. The condition is characterized by symptoms such as gait ataxia, slurred speech, impaired hearing, tremors, disequilibrium, neurobehavioral disturbances, and progressive cognitive decline.

Most cases of dementia pugilistica present with early onset cognitive deficits, and behavioral signs exhibited by patients include aggression, suspiciousness, paranoia, childishness, hypersexuality, depression, and restlessness. The progression of the condition leads to more prominent behavioral symptoms such as difficulty with impulse control, irritability, inappropriateness, and explosive outbursts of aggression.

Neuropathological abnormalities have been identified in CTE, with the most unique feature being the abnormal accumulation of tau in neurons and glia in an irregular, focal, perivascular distribution and at the depths of cortical sulci. Abnormalities of the septum pellucidum, such as cavum and fenestration, are also a common feature.

While the condition has become increasingly rare due to the progressive improvement in sports safety, it is important to recognize the potential long-term consequences of repeated head injuries and take steps to prevent them.

NMS can be identified by three primary symptoms: hyperthermia, rigidity, and elevated creatine phosphokinase concentration. If these symptoms are not present, the diagnosis of NMS should be reconsidered as other symptoms may be present in patients taking neuroleptics without having NMS. This information was reported by P Adnet in the British Journal of Anaesthesia in 2000.

Serotonin Syndrome and Neuroleptic Malignant Syndrome are two conditions that can be difficult to differentiate. Serotonin Syndrome is caused by excess serotonergic activity in the CNS and is characterized by neuromuscular abnormalities, altered mental state, and autonomic dysfunction. On the other hand, Neuroleptic Malignant Syndrome is a rare acute disorder of thermoregulation and neuromotor control that is almost exclusively caused by antipsychotics. The symptoms of both syndromes can overlap, but there are some distinguishing clinical features. Hyper-reflexia, ocular clonus, and tremors are more prominent in Serotonin Syndrome, while Neuroleptic Malignant Syndrome is characterized by uniform ‘lead-pipe’ rigidity and hyporeflexia. Symptoms of Serotonin Syndrome usually resolve within a few days of stopping the medication, while Neuroleptic Malignant Syndrome can take up to 14 days to remit with appropriate treatment. The following table provides a useful guide to the main differentials of Serotonin Syndrome and Neuroleptic Malignant Syndrome.

The Maudsley Guidelines 10th Edition state that there are several independent risk factors for QT prolongation, including being female, having hypokalemia, hypomagnesemia, hypocalcemia, and having anorexia nervosa.

Amantadine and QTc Prolongation

Amantadine is a medication used to treat Parkinson’s disease and influenza. It has been associated with QTc prolongation, which can increase the risk of Torsades de points. Therefore, caution should be exercised when prescribing amantadine to patients with risk factors for QT prolongation. If a patient is already taking amantadine and develops a prolonged QTc interval, the medication should be discontinued and an alternative treatment considered. It is important to monitor the QTc interval in patients taking amantadine, especially those with risk factors for QT prolongation.

Attachment Theory and Harlow’s Monkeys

Attachment theory, developed by John Bowlby, suggests that children have an innate tendency to form relationships with people around them to increase their chance of survival. This attachment is different from bonding, which concerns the mother’s feelings for her infant. Children typically single out a primary caregiver, referred to as the principle attachment figure, from about 1-3 months. The quality of a person’s early attachments is associated with their adult behavior, with poor attachments leading to withdrawn individuals who struggle to form relationships and good attachments leading to socially competent adults who can form healthy relationships.

Bowlby’s attachment model has four stages: preattachment, attachment in the making, clear-cut attachment, and formation of reciprocal attachment. The time from 6 months to 36 months is known as the critical period, during which a child is most vulnerable to interruptions in its attachment. Attachments are divided into secure and insecure types, with insecure types further divided into avoidant and ambivalent types.

Harlow’s experiment with young rhesus monkeys demonstrated the importance of the need for closeness over food. The experiment involved giving the monkeys a choice between two different mothers, one made of soft terry cloth but provided no food and the other made of wire but provided food from an attached baby bottle. The baby monkeys spent significantly more time with their cloth mother than with their wire mother, showing the importance of attachment and closeness in early development.

Lithium – Pharmacology

Pharmacokinetics:
Lithium salts are rapidly absorbed following oral administration and are almost exclusively excreted by the kidneys unchanged. Blood samples for lithium should be taken 12 hours post-dose.

Ebstein’s:
Ebstein’s anomaly is a congenital malformation consisting of a prolapse of the tricuspid valve into the right ventricle. It occurs in 1:20,000 of the general population. Initial data suggested it was more common in those using lithium but this had not held to be true.

Contraindications:
Addison’s disease, Brugada syndrome, cardiac disease associated with rhythm disorders, clinically significant renal impairment, untreated of untreatable hypothyroidism, low sodium levels.

Side-effects:
Common side effects include nausea, tremor, polyuria/polydipsia, rash/dermatitis, blurred vision, dizziness, decreased appetite, drowsiness, metallic taste, and diarrhea. Side-effects are often dose-related.

Long-term use is associated with hypothyroidism, hyperthyroidism, hypercalcemia/hyperparathyroidism, irreversible nephrogenic diabetes insipidus, and reduced GFR.

Lithium-induced diabetes insipidus:
Treatment options include stopping lithium (if feasible), keeping levels within 0.4-0.8 mmol/L, once-daily dose of the drug taken at bedtime, amiloride, thiazide diuretics, indomethacin, and desmopressin.

Toxicity:
Lithium salts have a narrow therapeutic/toxic ratio. Risk factors for lithium toxicity include drugs altering renal function, decreased circulating volume, infections, fever, decreased oral intake of water, renal insufficiency, and nephrogenic diabetes insipidus. Features of lithium toxicity include GI symptoms and neuro symptoms.

Pre-prescribing:
Before prescribing lithium, renal function, cardiac function, thyroid function, FBC, and BMI should be checked. Women of childbearing age should be advised regarding contraception, and information about toxicity should be provided.

Monitoring:
Lithium blood levels should be checked weekly until stable, and then every 3-6 months once stable. Thyroid and renal function should be checked every 6 months. Patients should be issued with an information booklet, alert card, and record book.

John’s behavior is causing distress and impairment in his ability to participate in family therapy and may have contributed to his child’s depression. His behavior is consistent with histrionic personality disorder, which is only found in the ICD-10. This disorder is characterized by self-dramatization, exaggerated emotions, suggestibility, a shallow and unstable emotional state, a constant need for attention and excitement, inappropriate seductive behavior, and an excessive concern with physical appearance. Other associated features may include egocentricity, self-indulgence, a constant desire for appreciation, easily hurt feelings, and manipulative behavior to meet personal needs.

Epigenetics is the study of alterations in gene expression that occur due to factors other than changes in the DNA sequence. These modifications can persist throughout the lifespan of a cell and even be passed down to future generations, but they do not involve any changes to the actual DNA sequence of the organism. Essentially, epigenetic changes can impact a cell, organ, of individual without directly affecting their genetic code, and can have an indirect effect on how the genome is expressed.

Macrocytic anaemia is the type that is commonly associated with valproate.

Valproate: Forms, Doses, and Adverse Effects

Valproate comes in three forms: semi-sodium valproate, valproic acid, and sodium valproate. Semi-sodium valproate is a mix of sodium valproate and valproic acid and is licensed for acute mania associated with bipolar disorder. Valproic acid is also licensed for acute mania, but this is not consistent with the Maudsley Guidelines. Sodium valproate is licensed for epilepsy. It is important to note that doses of sodium valproate and semi-sodium valproate are not the same, with a slightly higher dose required for sodium valproate.

Valproate is associated with many adverse effects, including nausea, tremor, liver injury, vomiting/diarrhea, gingival hyperplasia, memory impairment/confusional state, somnolence, weight gain, anaemia/thrombocytopenia, alopecia (with curly regrowth), severe liver damage, and pancreatitis. Increased liver enzymes are common, particularly at the beginning of therapy, and tend to be transient. Vomiting and diarrhea tend to occur at the start of treatment and remit after a few days. Severe liver damage is most likely to occur in the first six months of therapy, with the maximum risk being between two and twelve weeks. The risk also declines with advancing age.

Valproate is a teratogen and should not be initiated in women of childbearing potential. Approximately 10% of children exposed to valproate monotherapy during pregnancy suffer from congenital malformations, with the risk being dose-dependent. The most common malformations are neural tube defects, facial dysmorphism, cleft lip and palate, craniostenosis, cardiac, renal and urogenital defects, and limb defects. There is also a dose-dependent relationship between valproate and developmental delay, with approximately 30-40% of children exposed in utero experiencing delay in their early development, such as talking and walking later, lower intellectual abilities, poor language skills, and memory problems. There is also a thought to be a 3-fold increase of autism in children exposed in utero.

Debrisoquine hydroxylase is the primary enzyme responsible for metabolizing several antidepressants, such as tricyclics, selective serotonin reuptake inhibitors (SSRIs), venlafaxine, and others. Approximately 5 out of 100 individuals are poor metabolisers, which can lead to increased side effects from medications that rely on CYP2D6 for metabolism. Conversely, ultra-rapid metabolisers may require higher than average doses of these medications due to their highly active forms of the enzyme.

The Cytochrome P450 system is a group of enzymes that metabolize drugs by altering their functional groups. The system is located in the liver and small intestine and is involved in drug interactions through enzyme induction of inhibition. Notable inducers include smoking, alcohol, and St John’s Wort, while notable inhibitors include grapefruit juice and some SSRIs. CYP2D6 is important due to genetic polymorphism, and CYP3A4 is the most abundant subfamily and is commonly involved in interactions. Grapefruit juice inhibits both CYP1A2 and CYP3A4, while tobacco smoking induces CYP1A2. The table summarizes the main substrates, inhibitors, and inducers for each CYP enzyme.

Memory Forms

Memory is the ability to store, retain, and retrieve information. There are different forms of memory, including sensory memory, short-term/working memory, and long-term memory.

Sensory memory is the capacity for briefly retaining the large amounts of information that people encounter daily. It includes echoic memory (gathered through auditory stimuli), iconic memory (gathered through sight), and haptic memory (acquired through touch).

Short-term memory is the ability to keep a small amount of information available for a short period of time. Atkinson and Shiffrin’s multistore model (1968) suggests the existence of a short-term storehouse with limited capacity. Baddeley and Hitch (1974) further developed the concept of short-term memory, which eventually became known as Baddeley’s multi-storehouse model (2000). This model includes the central executive, visuospatial sketchpad, phonological buffer/loop, and episodic buffer.

Long-term memory includes declarative (of explicit) memories, which can be consciously retrieved, and nondeclarative (of implicit) memories, which cannot. Declarative memory includes episodic memory (stores personal experiences) and semantic memory (stores information about facts and concepts). Non-declarative memory includes procedural memory (recalls motor and executive skills), associative memory (storage and retrieval of information through association with other information), and non-associative memory (refers to newly learned behavior through repeated exposure to an isolated stimulus).

Overall, memory is a complex and essential cognitive function that plays a crucial role in learning, reasoning, and understanding.

Gender Development

Gender identity is the sense of oneself as male of female, which is different from a person’s assigned sex at birth. Gender dysphoria occurs when a person’s gender does not match their sex. Infants as young as 10 months old can form stereotypic associations between faces of women and men and gender-typed objects. By 18-24 months, most children can label gender groups and use gender labels in their speech. Children typically develop gender awareness of their own self around 18 months and declare a gender identity of male of female by age 5-6. It is normal for children to experiment with gender expression and roles. For the majority of pre-pubertal children, gender dysphoria does not persist into adolescence, with only a minority (15%) experiencing persistent gender dysphoria. (Levy, 1994; Martin, 2010; Steensma, 2011).

Interview Techniques: Open and Closed Questions

When conducting an interview, it is important to use the appropriate types of questions. Open questions are designed to encourage a detailed response and can help to open up the conversation. In contrast, closed questions typically result in a yes of no answer and are useful for clarifying specific details. By using a combination of open and closed questions, interviewers can gather more information and gain a better understanding of the interviewee’s perspective. It is important to use these techniques effectively to ensure a successful interview.

While quality adjusted life years (QALY) are a utilitarian measure, it would be extreme to suggest that individuals with illnesses that require expensive treatments should not be treated solely based on the cost-benefit analysis. The general population does not strictly adhere to utilitarian principles, and therefore, The National Institute for Health and Care Excellence (NICE) considers other factors such as justice and the availability of alternative treatments for a particular condition in addition to the cost per QALY when making recommendations.

Genetic Conditions and Their Features

Genetic conditions are disorders caused by abnormalities in an individual’s DNA. These conditions can affect various aspects of a person’s health, including physical and intellectual development. Some of the most common genetic conditions and their features are:

– Downs (trisomy 21): Short stature, almond-shaped eyes, low muscle tone, and intellectual disability.
– Angelman syndrome (Happy puppet syndrome): Flapping hand movements, ataxia, severe learning disability, seizures, and sleep problems.
– Prader-Willi: Hyperphagia, excessive weight gain, short stature, and mild learning disability.
– Cri du chat: Characteristic cry, hypotonia, down-turned mouth, and microcephaly.
– Velocardiofacial syndrome (DiGeorge syndrome): Cleft palate, cardiac problems, and learning disabilities.
– Edwards syndrome (trisomy 18): Severe intellectual disability, kidney malformations, and physical abnormalities.
– Lesch-Nyhan syndrome: Self-mutilation, dystonia, and writhing movements.
– Smith-Magenis syndrome: Pronounced self-injurious behavior, self-hugging, and a hoarse voice.
– Fragile X: Elongated face, large ears, hand flapping, and shyness.
– Wolf Hirschhorn syndrome: Mild to severe intellectual disability, seizures, and physical abnormalities.
– Patau syndrome (trisomy 13): Severe intellectual disability, congenital heart malformations, and physical abnormalities.
– Rett syndrome: Regression and loss of skills, hand-wringing movements, and profound learning disability.
– Tuberous sclerosis: Hamartomatous tumors, epilepsy, and behavioral issues.
– Williams syndrome: Elfin-like features, social disinhibition, and advanced verbal skills.
– Rubinstein-Taybi syndrome: Short stature, friendly disposition, and moderate learning disability.
– Klinefelter syndrome: Extra X chromosome, low testosterone, and speech and language issues.
– Jakob’s syndrome: Extra Y chromosome, tall stature, and lower mean intelligence.
– Coffin-Lowry syndrome: Short stature, slanting eyes, and severe learning difficulty.
– Turner syndrome: Short stature, webbed neck, and absent periods.
– Niemann Pick disease (types A and B): Abdominal swelling, cherry red spot, and feeding difficulties.

It is important to note that these features may vary widely among individuals with the same genetic condition. Early diagnosis and intervention can help individuals with genetic conditions reach their full potential and improve their quality of life.