Developmental and learning disorders: Pathology review

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Case study0:00–0:41

A nine year old male named Yama is brought to the clinic by his mother who is concerned about Yam'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. Ya's mother estimates this behavior started about eight 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. Ok?

Pathology0:41–1:59

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 set 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 result, 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.

Autism spectrum disorder1:59–4:53

Ok. 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 three 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 non verbal communication, which refers to difficulties either using non verbal 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 non verbal 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 difficulty 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 is no cure for autism spectrum disorder, but there are treatment options that can help maximize the 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.

Rett syndrome4:53–7:28

Ok. Next is Rett Syndrome.
This is caused by a mutation in the methyl CPG binding protein two gene or MCP two gene which is found on the X chromosome for your exams.
Remember that this mutation usually occurs de nova or sporadically, meaning that it's usually not inherited from a parent and it's X linked dominant.
So it's almost exclusively manifests in biological females. That's because they have two X chromosomes.
So the mutated me CP two gene can be compensated for by a functional Me CP two gene on the other X chromosome. On the other hand, biological males have only one X chromosome and that might be why males with the mutation typically die in utero or shortly after birth.
Now, the ME CP two gene codes for the MCP two protein, which is particularly important for brain development specifically to help establish neuronal connections.
So when a baby with the ME CP two gene mutation is born, the low levels of me CP two proteins from that one functional X chromosome are sufficient for normal brain development.
But after six months of age, as the brain grows more complex, the level of MCP two becomes insufficient to sustain its development.
Now, symptoms of Rett syndrome most commonly appear between the ages of six and 18 months, becoming evident by the age of four years and include a regression in all motor verbal and cognitive skills.
For example, a child who could initially speak a few words or grasp things with their hands may no longer be able to do that.
Children often also demonstrate classic repetitive hand wringing, like flapping their hands or clasping their hands together tightly.
Some Children may also have microcephaly or an abnormally small head due to a rapid deceleration of head and brain growth as well as seizures and ataxia, which is an inability to move in a coordinated way.
The diagnosis of Rett Syndrome can be confirmed via a genetic test. Looking for the mep two mutation.
Unfortunately, there's no cure for Rett Syndrome. So, treatment typically involves a multidisciplinary team that includes occupational speech and physical therapist to help optimize the child's life.

Intellectual disability7:28–8:23

Ok. Next, intellectual disability also called intellectual development disorder affect the child's overall cognitive skills and is characterized by deficits in areas like memory, reasoning, problem solving, planning, judgment, language and learning.
All this impairs the ability of the child to function independently in their everyday life, leading to problems with education, occupation, communication and socialization.
What you need to remember is that these deficits need to be confirmed by a standardized intelligence quotient or IQ test lower than 70 in terms of treatment.
This often includes psychotherapy as well as occupational therapy which helps Children become more independent in everyday activities such as personal hygiene, bathing, dressing, eating, and drinking, and special education, which is tailored to each student's unique needs.
Next is specific learning disorder which is characterized by deficit or difficulty learning and developing certain skills or subjects such as reading or dyslexia, writing or dysgraphia and math or dyscalculia.

Intellectual disability8:23–9:42

Keep in mind that it should last for over six months. In spite of getting focused help or assistance.
This is usually diagnosed during the school aged years when a child's skill is changing frequently and falls below what they're expected to learn at a certain age for your exams.
What you need to know is that some individuals may experience difficulty with more than one or all three subjects. So the reason why this disorder is considered specific is because it doesn't stem from another condition like an intellectual disorder doesn't affect overall functioning in everyday activities and isn't due to an obvious environmental cause, like not being taught how to perform that skill for treatment with appropriate teaching modifications, academic support with one on one tutoring and counseling.
Individuals can master all of these skills, participation in after-school or extracurricular activities like arts and sports may also give these Children the chance to succeed beyond the formal learning environment and strengthen their social and emotional skills while having fun.
Another high yield. And quite common disorder is attention deficit hyperactivity disorder or ADHD for short.

Attention deficit hyperactivity disorder9:42–11:19

This is characterized by inattention which refers to an inability to pay close attention to details, making careless mistakes, not listening or being easily distracted and can be associated with hyperactivity and impulsivity where Children might fidget squirm around and get up from their chair often.
Now the most important thing to keep in mind here is that symptoms of AD HD first appear prior to the age of 12 years are out of proportion for what's usually seen at that person's developmental level, last for at least six months, but may persist until adulthood.
They also need to occur in at least two settings like at home, at school or other places which often result in impaired school performance.
However, remember that their intelligence quotient is normal. Now, treatment of AD HD is often challenging and classically involves behavioral psychotherapy which focuses on teaching the child better time management and organizational skills as well as stimulant medications like methylphenydate or amphetamines.
As an alternative, individuals with AD HD can be given nonstimulant medications like atomoxetine, which is a selective nonepinephrine reuptake inhibitor as well as Guanfacine and cloNIDine, which are alpha two adrenergic receptor agonists.
All right. As a quick recap, autism spectrum disorder is characterized by two core types of deficits that involves social communication and interaction in many contexts as well as restricted and repetitive patterns of behavior, interests or activities.

Review11:19–12:37

Rett syndrome is caused by an X linked dominant mutation of the MCP two gene affects most exclusively females and causes regression in motor verbal and cognitive skills as well as microcephaly seizures and ataxia.
Intellectual disability affects overall cognitive skills with deficits, involving memory reasoning, problem solving planning, judgment, language and learning.
So individuals fail to achieve independent and social responsibility in specific learning disorder. There are difficulties learning, certain skills such as reading or dyslexia, writing or dysgraphia and math or dyscalculia for at least six months.
Despite getting focused help attention deficit hyperactivity disorder is marked by inattention or hyperactivity and impulsivity or both with an onset prior to 12 years of age and persists for at least six months.

Summary12:37–13:16

Ok. Back to our case.
Yama is a nine year old male that for about eight months now has been having trouble paying attention at school and is forgetful when it comes to assignments and disregards what his parents or teacher tell him.
All of these findings point to inattention. At the same time.
Yama can't sit, still, seems restless and is constantly grabbing objects around him, which should make you think of hyperactivity.
And since Yama is under 12 years of age combined with the fact that he's been exhibiting this behavior for more than six months, both at school and at home.
This is a classic case of attention deficit hyperactivity disorder.