Developmental and learning disorders: Pathology review

Last updated: January 13, 2024

Developmental and learning disorders: Pathology review

Pathology Review

Pathology Review

Acyanotic congenital heart defects: Pathology review
Cyanotic congenital heart defects: Pathology review
Atherosclerosis and arteriosclerosis: Pathology review
Coronary artery disease: Pathology review
Peripheral artery disease: Pathology review
Valvular heart disease: Pathology review
Cardiomyopathies: Pathology review
Heart failure: Pathology review
Supraventricular arrhythmias: Pathology review
Ventricular arrhythmias: Pathology review
Heart blocks: Pathology review
Aortic dissections and aneurysms: Pathology review
Pericardial disease: Pathology review
Endocarditis: Pathology review
Hypertension: Pathology review
Shock: Pathology review
Vasculitis: Pathology review
Cardiac and vascular tumors: Pathology review
Dyslipidemias: Pathology review
Adrenal insufficiency: Pathology review
Adrenal masses: Pathology review
Hyperthyroidism: Pathology review
Hypothyroidism: Pathology review
Thyroid nodules and thyroid cancer: Pathology review
Parathyroid disorders and calcium imbalance: Pathology review
Diabetes mellitus: Pathology review
Cushing syndrome and Cushing disease: Pathology review
Pituitary tumors: Pathology review
Hypopituitarism: Pathology review
Diabetes insipidus and SIADH: Pathology review
Multiple endocrine neoplasia: Pathology review
Eye conditions: Refractive errors, lens disorders and glaucoma: Pathology review
Eye conditions: Retinal disorders: Pathology review
Eye conditions: Inflammation, infections and trauma: Pathology review
Vertigo: Pathology review
Nasal, oral and pharyngeal diseases: Pathology review
Congenital gastrointestinal disorders: Pathology review
Esophageal disorders: Pathology review
GERD, peptic ulcers, gastritis, and stomach cancer: Pathology review
Inflammatory bowel disease: Pathology review
Malabsorption syndromes: Pathology review
Diverticular disease: Pathology review
Appendicitis: Pathology review
Gastrointestinal bleeding: Pathology review
Colorectal polyps and cancer: Pathology review
Pancreatitis: Pathology review
Gallbladder disorders: Pathology review
Jaundice: Pathology review
Viral hepatitis: Pathology review
Cirrhosis: Pathology review
Microcytic anemia: Pathology review
Non-hemolytic normocytic anemia: Pathology review
Intrinsic hemolytic normocytic anemia: Pathology review
Extrinsic hemolytic normocytic anemia: Pathology review
Macrocytic anemia: Pathology review
Heme synthesis disorders: Pathology review
Coagulation disorders: Pathology review
Platelet disorders: Pathology review
Mixed platelet and coagulation disorders: Pathology review
Thrombosis syndromes (hypercoagulability): Pathology review
Lymphomas: Pathology review
Leukemias: Pathology review
Plasma cell disorders: Pathology review
Myeloproliferative disorders: Pathology review
Immunodeficiencies: T-cell and B-cell disorders: Pathology review
Immunodeficiencies: Combined T-cell and B-cell disorders: Pathology review
Immunodeficiencies: Phagocyte and complement dysfunction: Pathology review
Pigmentation skin disorders: Pathology review
Acneiform skin disorders: Pathology review
Papulosquamous and inflammatory skin disorders: Pathology review
Vesiculobullous and desquamating skin disorders: Pathology review
Skin cancer: Pathology review
Viral exanthems of childhood: Pathology review
Back pain: Pathology review
Rheumatoid arthritis and osteoarthritis: Pathology review
Seronegative and septic arthritis: Pathology review
Gout and pseudogout: Pathology review
Systemic lupus erythematosus (SLE): Pathology review
Scleroderma: Pathology review
Sjogren syndrome: Pathology review
Bone disorders: Pathology review
Bone tumors: Pathology review
Myalgias and myositis: Pathology review
Neuromuscular junction disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Congenital neurological disorders: Pathology review
Headaches: Pathology review
Seizures: Pathology review
Cerebral vascular disease: Pathology review
Traumatic brain injury: Pathology review
Spinal cord disorders: Pathology review
Central nervous system infections: Pathology review
Movement disorders: Pathology review
Demyelinating disorders: Pathology review
Adult brain tumors: Pathology review
Pediatric brain tumors: Pathology review
Neurocutaneous disorders: Pathology review
Congenital renal disorders: Pathology review
Renal tubular defects: Pathology review
Renal tubular acidosis: Pathology review
Acid-base disturbances: Pathology review
Electrolyte disturbances: Pathology review
Renal failure: Pathology review
Nephrotic syndromes: Pathology review
Nephritic syndromes: Pathology review
Urinary incontinence: Pathology review
Urinary tract infections: Pathology review
Kidney stones: Pathology review
Renal and urinary tract masses: Pathology review
Disorders of sex chromosomes: Pathology review
Prostate disorders and cancer: Pathology review
Testicular tumors: Pathology review
Uterine disorders: Pathology review
Ovarian cysts and tumors: Pathology review
Cervical cancer: Pathology review
Vaginal and vulvar disorders: Pathology review
Benign breast conditions: Pathology review
Breast cancer: Pathology review
Complications during pregnancy: Pathology review
Congenital TORCH infections: Pathology review
Disorders of sexual development and sex hormones: Pathology review
Amenorrhea: Pathology review
Testicular and scrotal conditions: Pathology review
Sexually transmitted infections: Warts and ulcers: Pathology review
Sexually transmitted infections: Vaginitis and cervicitis: Pathology review
HIV and AIDS: Pathology review
Respiratory distress syndrome: Pathology review
Cystic fibrosis: Pathology review
Pneumonia: Pathology review
Tuberculosis: Pathology review
Deep vein thrombosis and pulmonary embolism: Pathology review
Pleural effusion, pneumothorax, hemothorax and atelectasis: Pathology review
Obstructive lung diseases: Pathology review
Restrictive lung diseases: Pathology review
Apnea, hypoventilation and pulmonary hypertension: Pathology review
Lung cancer and mesothelioma: Pathology review
Mood disorders: Pathology review
Amnesia, dissociative disorders and delirium: Pathology review
Personality disorders: Pathology review
Eating disorders: Pathology review
Psychological sleep disorders: Pathology review
Psychiatric emergencies: Pathology review
Drug misuse, intoxication and withdrawal: Hallucinogens: Pathology review
Malingering, factitious disorders and somatoform disorders: Pathology review
Trauma- and stress-related disorders: Pathology review
Schizophrenia spectrum disorders: Pathology review
Drug misuse, intoxication and withdrawal: Stimulants: Pathology review
Drug misuse, intoxication and withdrawal: Alcohol: Pathology review
Developmental and learning disorders: Pathology review
Childhood and early-onset psychological disorders: Pathology review
Disorders of carbohydrate metabolism: Pathology review
Lysosomal storage disorders: Pathology review
Disorders of fatty acid metabolism: Pathology review
Glycogen storage disorders: Pathology review
Disorders of amino acid metabolism: Pathology review
Fat-soluble vitamin deficiency and toxicity: Pathology review
Zinc deficiency and protein-energy malnutrition: Pathology review
Water-soluble vitamin deficiency and toxicity: B1-B7: Pathology review
Peroxisomal disorders: Pathology review
Purine and pyrimidine synthesis and metabolism disorders: Pathology review
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Environmental and chemical toxicities: Pathology review
Medication overdoses and toxicities: Pathology review

Questions

USMLE® Step 1 style questions USMLE

0 of 4 complete

Start
An 11-year-old boy is brought to the pediatrician by his parents for evaluation of behavior problems over the past 7 months. The patient has been frequently interrupting his parents when they are speaking with others. He often forgets to complete tasks assigned to him, such as cleaning up toys or taking out the trash and is easily distracted. His parents state that when they speak to him, he often does not seem to listen. The patient has been performing poorly in school, and his parents are scheduled to meet with the teacher next week. Past medical history is notable for a tonsillectomy at age 9. Height and weight are consistently tracking at the 50th percentile. Physical examination is unremarkable. Which of the following would be most useful in identifying the patient’s underlying condition?  

Transcript

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A 9 year old male, named Yama, is brought to the clinic by his mother, who is concerned about Yama’s behavior. She explains that his teacher has repeatedly complained about yama constantly disrupting the class and interrupting his classmates. In addition, Yama also seems to struggle paying attention to his teacher and constantly forgets to do his assignments. At home, Yama seems to find it hard to sit still, and often disregards anything his parents tell him. Yama’s mother estimates this behavior started about 8 months ago, and she thought it would just be a phase. During the visit, you notice that Yama seems restless and is constantly grabbing objects around him.

Okay, based on the initial presentation, yama seems to have some form of developmental and learning disorder. Now, everyone develops at slightly different paces, but almost everyone hits the same general developmental milestones and learns the same sets of skills at about the same time. These are things like language and communication, socializing, cognitive skills like problem solving, and physical milestones like walking, crawling, and fine motor skills, all of which all progress as the brain develops.

If one of these doesn’t develop as scheduled, it may be described as a type of developmental and learning disorder.

These include several psychological conditions that typically have their onset during childhood, although some of these disorders may last into adulthood. As a consequence, these disorders can interfere with how the affected person functions independently in society, and impair everyday activities like working, studying, eating, and sleeping, as well as have an impact on their families.

For your exams, the most high yield developmental and learning disorders are autism spectrum disorder, rett syndrome, intellectual disability, specific learning disorder, and attention deficit hyperactivity disorder.

Okay, let’s start with autism spectrum disorder. For your exams, remember that this is more common in males and typically first presents in early childhood, before the age of 3, and lasts throughout the individual’s life. Now, autism spectrum disorder is thought to have a genetic cause, which ultimately affects brain development, and may lead to an enlarged brain or head. And that’s extremely high yield!

Now, for the diagnosis of autism spectrum disorder, there are two core types of deficits: social communication and interaction deficits, and restrictive or repetitive behavior, interests, and activities. So, for the social communication and interaction area, there should be deficits in all three of the following areas. First is deficits in social-emotional reciprocity, which refers to how children respond or reciprocate in social or emotional interactions. Second is deficits in nonverbal communication, which refers to difficulties either using nonverbal communication themselves, like putting their arms out when they want to be picked up; or interpreting nonverbal cues from someone else, like being unable to tell when a parent’s upset, even if the parent’s frowning and crossing their arms. And third is deficits in developing, maintaining, and understanding social relationships, which ranges from adjusting their behavior to suit a specific context, to difficulties with making and keeping friends.

The second core type of deficit associated with autism spectrum disorder involves restricted and repetitive behaviors, interests, and activities. In a test question, keep an eye out for at least two of the following four symptoms. First, there are stereotyped or repetitive motor movements, which can involve eye twitches, use of objects, or speech. Second, individuals can be inflexible when it comes to change, or might show ritualized patterns of verbal or nonverbal behavior, like always facing one direction when they play, or lining up their toys. Third, they might have highly restricted, fixated interests like having a very specific and in-depth knowledge of computers. In addition, they might have difficulties switching between activities. And fourth, they could show hyper- or hypo reactivity to specific sensory stimulation, like being indifferent to pain or getting extremely upset by the sound of rain.

There’s no cure for autism spectrum disorder, but there are treatment options that can help maximize quality of life and functional independence. This includes things like specialized educational programs and behavior therapy, which must be specifically and carefully tailored to each child.

Sources

  1. "Robbins Basic Pathology" Elsevier (2017)
  2. "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
  3. "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
  4. "Diagnostic and Statistical Manual of Mental Disorders" (2013)
  5. "The savant syndrome: an extraordinary condition. A synopsis: past, present, future" Philosophical Transactions of the Royal Society B: Biological Sciences (2009)
  6. "Practitioner Review: What have we learnt about the causes of ADHD?" Journal of Child Psychology and Psychiatry (2012)