Neurodevelopmental Disabilities (PDF)

**OUTLINE** I. **Traditional Concepts of Developmental Disabilities** II. **Neurodevelopmental Disabilities** III. **DSM-V: Neurodevelopmental Developmental Disorders** IV. **Intellectual Disabilities** V. **Unspecified Intellectual Disabilities** VI. **Autism Spectrum Disorders** VII. **At...

**OUTLINE** I. **Traditional Concepts of Developmental Disabilities** II. **Neurodevelopmental Disabilities** III. **DSM-V: Neurodevelopmental Developmental Disorders** IV. **Intellectual Disabilities** V. **Unspecified Intellectual Disabilities** VI. **Autism Spectrum Disorders** VII. **Attention Deficit Disorder** VIII. **DSM-V: Neurodevelopmental Disorders** IX. **Language Communication Disorders** X. **Motor Speech Disorders** XI. **Case Discussion Examples** +-----------------------+-----------------------+-----------------------+ | **LEGEND** | | | +=======================+=======================+=======================+ | ⭐ | 🖊️ | 📖 | | | | | | Must | Lecture | Book | | | | | | Know | *\[lec\]* | *\[bk\]* | +-----------------------+-----------------------+-----------------------+ LEARNING OUTCOMES {#learning-outcomes.TransSub-subtopic2} ----------------- At the end of this learning session, the Future Bedan MD must be able to: 1. Define normal neurodevelopmental milestones and its red flag signs 2. Recognize more common neurodevelopmental disorders and diagnose them 3. Formulate an appropriate plan of management for children with neurodevelopmental disability TRADITIONAL CONCEPTS OF DEVELOPMENT {#traditional-concepts-of-development.TransOutline} =================================== - Gross motor - Fine motor - Receptive language - Expressive language - Problem solving - Social-adaptive skills 🖊️ *Child development is a series of milestones gained in stepwise fashion in various categories wherein the traditional concepts of development are divided into 6 domains. These are the gross motor, fine motor, receptive and expressive language, problem solving, social-adaptive skills* NEURODEVELOPMENTAL DISABILITIES {#neurodevelopmental-disabilities.TransOutline} =============================== - Reflects alterations in neural maturation. - Manifest during developmental period and result in [lifelong functional impairment] - [Cognitive impairment] may be one of the neurologic symptoms or a dominant feature. - Affects [cognition and attention]. 🖊️ Neurodevelopmental disabilities or NDD's are a group of neurologic disorder with onset early in life compromising mental development and they are more prominent in preschool and early grade school years. It reflects alteration in neural maturation that leads to abnormalities in CNS development and may lead to lifelong functional impairment. Cognitive impairment may be one of the neurologic symptoms or a dominant feature. SPECTRUM OF NDDs {#spectrum-of-ndds.TransSubtopic1} ---------------- - Motor - Sensory - Cognitive - Language - Executive functions - Social and behavioral disorders 🖊️ *Spectrum of NDD\'s include wide range of disorder with significant overlap and has varying causes. This includes conditions that affects* *motor, sensory, cognitive, language, executive functions, social and behavioral disorders.* TERMINOLOGIES {#terminologies.TransSubtopic1} ------------- - **Delay** -- lag in one or more aspects of development - Example: - motor delay in patients with cerebral palsy - speech delay in autism spectrum disorder - if two or more domains are affected it is termed as global developmental delay - **Dissociation** -- discrepancy between different developmental domains - Example: - a cerebral palsy child struggles with gross motor milestones but do not necessarily display difficulties with language acquisition - **Deviance** -- an abnormal sequence of development - Child usually presents with skipping milestones and could signify a hidden pathology - Example: - a child pushing to stand up without being able to crawl - would signify spasticity or hypertonicity of his lower limbs - patients with William's syndrome - expressive language is more elaborate than the receptive abilities +-----------------------+-----------------------+-----------------------+ | **Table 1. Typical | | | | Cognitive and | | | | Language | | | | Developmental | | | | Milestones of Infancy | | | | and Childhood** | | | +=======================+=======================+=======================+ | **AGE** | **EARLY COGNITIVE | **EARLY LANGUAGE | | | MILESTONE** | MILESTONE** | +-----------------------+-----------------------+-----------------------+ | **From birth** | - Interest in faces | Phonologic | | | | discrimination | | | - Begins to make | | | | eye contact | | +-----------------------+-----------------------+-----------------------+ | **Few months** | - Social smile | Responsive | | | should develop | vocalization, | | | before 6 weeks of | turn-talking, cooing | | | age. | (vowels) | | | | | | | - Laughing out loud | | | | is a reliable | | | | milestone that | | | | should occur | | | | around 4 months | | | | of age | | +-----------------------+-----------------------+-----------------------+ | **6-8 months** | - Grabbing for | - Babbling | | | objects, | consonants/ | | | exploring | vowels, | | | surroundings | syllables, dada, | | | | baba. | +-----------------------+-----------------------+-----------------------+ | **10-12 months** | - Pointing to | - 2-3 words with | | | indicate wanted | meaning | | | objects. | | | | | - Imitation of | | | - Comprehension of | animals | | | words | | +-----------------------+-----------------------+-----------------------+ | **18-22 months** | - Should follow | - Vocabulary spurt | | | simple commands. | | | | | - Jargonizing | | | - Indicate body | develops | | | parts. | interspersed with | | | | intelligent | | | - Ask for objects | words. | | | by pointing. | | | | | - Receptive | | | - Imitate actions | language and | | | | understanding are | | | | more developed | | | | than speech | +-----------------------+-----------------------+-----------------------+ | | - Onlooker, | - By 2 years: word | | | behavior, | combinations/many | | | nonsocial | single words | | | activity, and | | | | solitary | - Expansion of | | | independent play | comprehension | +-----------------------+-----------------------+-----------------------+ | **Around 2 years** | - Limited social | - 2-word | | | participation | utterances; | | | | mostly | | | - Parallel play | intelligible to | | | | family; | | | | comprehend many | | | | sentences | +-----------------------+-----------------------+-----------------------+ | **By 3 years** | Beginning social play | - Speaks in | | | (the child talks | grammatical | | | about play, | sentences (with | | | borrows/lends toys, | some errors) | | | controls who may play | | | | in the group) | - Mostly | | | | intelligible to | | | | strangers (still | | | | makes phonologic | | | | errors) | +-----------------------+-----------------------+-----------------------+ 🖊️*Presented in this table is the typical cognitive and language developmental milestones of a child.* - A child starts to - have social smile at approximately 2 months - babbling and grabs at objects at 6-8 months - can follow simple commands and jargons at 18-22 months - can develop parallel play and comprehend many sentences at 2 years old - begins social play with intelligible words even to strangers by the end of 3 years old CLINICAL CUES {#clinical-cues.TransSubtopic1} ------------- When would you suspect that the child is having NDDs? - - - - - - - - - - - - - +-----------------------+-----------------------+-----------------------+ | **Table 2. Clinical | | | | Clue, Etiology and | | | | Examples.** | | | +=======================+=======================+=======================+ | **CLINICAL CUES** | **ETIOLOGIC | **EXAMPLES** | | | CATEGORY** | | +-----------------------+-----------------------+-----------------------+ | Family member with | Genetic | - Mendelian | | known condition, | | dominant | | mental retardation, | | recessive, | | other developmental | | X-linked | | disabilities, | | | | multiple miscarriages | | - Some | | | | mitochondrial | | | | disorders | | | | | | | | - Cytogenic/chromos | | | | omal | | | | anomalies | +-----------------------+-----------------------+-----------------------+ | Facial dysmorphism, | Genetic or acquired | CHARGE syndrome, | | several CNS | during embryogenesis | anencephaly, | | malformations | | holoprosencephaly, | | | | septo-optic dysplasia | +-----------------------+-----------------------+-----------------------+ | Evidence of | Genetic or acquired | Lissencephaly | | neuroblast | during the fetal | (Miller-Dieker | | migrational disorder, | period | syndrome), X-linked | | hydrocephalus, | | hydrocephalus | | congenital | | | | microcephaly | | | +-----------------------+-----------------------+-----------------------+ | Born too soon, too | Prematurity | Periventricular | | small | | leukomalacia | +-----------------------+-----------------------+-----------------------+ | Low APGAR scores, low | Perinatal | Hypoxic-ischemic | | cord pH, neonatal | | encephalopathy | | seizures | | | +-----------------------+-----------------------+-----------------------+ | Acquired | Postnatal | Rett syndrome | | microcephaly, | | | | stagnation in | | | | developmental gain | | | +-----------------------+-----------------------+-----------------------+ | Postnatal vomiting, | Metabolic | Phenylketonuria, urea | | failure to thrive, | | cycle disorders, | | hypoglycemia | | organic aciduria, | | | | other specific enzyme | | | | defects | +-----------------------+-----------------------+-----------------------+ | Cerebral | Infectious | CMV encephalopathy, | | calcifications, | | toxoplasmosis, herpes | | congenital or | | simplex viruses, HIV, | | acquired microcephaly | | bacterial meningitis | +-----------------------+-----------------------+-----------------------+ | Hemorrhage, | Cerebrovascular | Factor V Leiden | | infarction, venous | | deficiency, sickle | | thrombosis | | cell disease | +-----------------------+-----------------------+-----------------------+ | Failure to thrive | Nutritional | Prenatal and | | | | postnatal protein | | | | malnutrition, | | | | vitamin, and | | | | essential element | | | | deficiency | +-----------------------+-----------------------+-----------------------+ | Parental drug abuse, | Prenatal, perinatal, | Fetal alcohol | | neonatal jaundice, | postnatal toxic | syndrome, neonatal | | acute encephalopathy | exposure | hyperbilirubinemia, | | | | lead poisoning | +-----------------------+-----------------------+-----------------------+ | Dry skin, hypotonia, | Endocrine | Hypothyroidism | | hyporeflexia | | | +-----------------------+-----------------------+-----------------------+ | Extreme poverty, | Sociocultural/ | Nonaccidental head | | parental drug abuse, | environmental | trauma, emotional | | low parental | | deprivation, lack of | | educational level, | | infant stimulation | | severe plagiocephaly | | | +-----------------------+-----------------------+-----------------------+ | Nonspecific findings | Unknown | Up to one-half of all | | | | developmental | | | | disabilities | +-----------------------+-----------------------+-----------------------+ APPROACH TO EVALUATION {#approach-to-evaluation.TransSubtopic1} ---------------------- 🖊️*The approach to the development of intellectual disability is always a good history and physical examination.* - **Developmental history** Developmental milestones - Does the child have at par developmental milestones - Adaptive measures - - **Birth and maternal history** - - - - - - - **Social History** - - **Family History** - **Physical Examination** - - - - - - - - - DSM V: NEURODEVELOPMENTAL DISORDERS {#dsm-v-neurodevelopmental-disorders.TransOutline} =================================== - Intellectual Disabilities - Communication Disorders - Autism Spectrum Disorders - Attention Deficit-Hyperactivity Disorders - Specific Learning Disorder - Motor Disorders IV. INTELLECTUAL DISABILITIES {#iv.-intellectual-disabilities.TransOutline} ============================= COMPARISON OF DEFINITIONS {#comparison-of-definitions.TransSubtopic1} ------------------------- +-----------------------+-----------------------+-----------------------+ | **Table 3. Comparison | | | | of definitions | | | | between DSM IV and | | | | DSM 5** | | | +=======================+=======================+=======================+ | **CRITERIA** | **DSM IV** | **DSM-5** | +-----------------------+-----------------------+-----------------------+ | **Name** | - Mental | Intellectual | | | retardation | disabilities | | | | | | | - Cognitive | | | | disorder | | +-----------------------+-----------------------+-----------------------+ | **Intellectual | - Significant | - Deficits | | function** | sub-average | (reasoning, | | | intellectual | problem-solving, | | | functioning | planning, | | | | abstract thinking | | | - IQ: \/=2 | Deficits in adaptive | | | areas | function result in | | | | failure to meet | | | | socio-cultural | | | | standards (e.g., Lack | | | | of judgement? And | | | | related to | | | | intellectual | | | | impairments | +-----------------------+-----------------------+-----------------------+ | **Age of Onset** | Before age 18 | During developmental | | | | period | +-----------------------+-----------------------+-----------------------+ | **Severity** | Based on IQ | Based on adaptive | | | | function | +-----------------------+-----------------------+-----------------------+ - - CONCEPTS AND DIAGNOSTIC CRITERIA {#concepts-and-diagnostic-criteria.TransSubtopic1} -------------------------------- A diagram of a diagram Description automatically generated {#a-diagram-of-a-diagram-description-automatically-generated.TransSub-subtopic2} ---------------------------------------------------------- Figure 1. DSM-5 Intellectual Disabilities. - - - - - - - - - - - Deficits in reasoning, problem-solving, planning, abstract thinking, judgement, academic leaning, and learning from experience - Confirmed by formal clinical assessment and individual standardized IQ testing - - Result in failure to meet developmental and sociocultural standards for personal independence and social responsibility - Without ongoing support, the adaptive deficits limit functioning in one or more activities of daily life (communication, social participation, independent living) across multiple environments (e.g., home, school, work, community) - This **must be directly related to the intellectual impairments described in Criterion A** - Fundamental problem faced by individuals with ID, is an INABILITY to recognize and avoid risk - **Physical Risk** (e.g., following crowd crossing road without checking safety) - **Social Risk** (e.g., being victimized, bullied) - - - SEVERITY LEVEL {#severity-level.TransSub-subtopic2} -------------- - Based on **three (3) domains** - **[Conceptual]** -- language, reading, writing, math reasoning, knowledge, and memory - **[Social]** -- awareness of other's experience, empathy, interpersonal communication skills, friendship abilities, social judgement, and self-regulation - **[Practical]** -- self management across life setting, including personal care, job responsibilities, money management, recreation, managing one's behavior and organizing school and work tasks +-----------------------+-----------------------+-----------------------+ | **Table 4. Severity | | | | Level in IDD** | | | +=======================+=======================+=======================+ | **Mild** IDD | **Slower in all | They can learn | | | areas** in conceptual | practical skill which | | | development and | allows then to | | | social and daily | function in ordinary | | | living skills | life with minimal | | | | level of support | | | | | | | | **⭐ Employable; most | | | | are independent in | | | | ADL** | +-----------------------+-----------------------+-----------------------+ | **Moderate** IDD | **Can take care of | Self-care requires | | | themselves**, travel | **moderate support** | | | to familiar places in | | | | their community and | **⭐ Employable at | | | learn basic skills | simple jobs** | | | related to safety and | | | | death | | +-----------------------+-----------------------+-----------------------+ | **Severe** IDD | **Major delay in | **⭐ Needs | | | development** | supervision** in | | | | social settings and | | | Ability to understand | need family care to | | | speech but limited | live in a supervised | | | communication skills | setting such as group | | | | | | | Learn simple daily | (Most are trainable | | | routine and engage in | in ADL (often need | | | simple self-care | help). May be | | | | employable in a | | | | sheltered | | | | environment) | +-----------------------+-----------------------+-----------------------+ | **Profound** IDD | Often with congenital | **⭐ Cannot live | | | syndromes | independently** | | | | | | | Require close | **Close supervision** | | | supervision and help | | | | with self-care | **May be trainable** | | | physical limitations | | +-----------------------+-----------------------+-----------------------+ {#section.TransSub-subtopic2} SUMMARY OF INTELECTUAL DISABILITY (DSM-5) {#summary-of-intelectual-disability-dsm-5.TransSub-subtopic2} ----------------------------------------- - To diagnose ID we are not using mental retardation and cognitive disorder anymore, instead we use Intellectual Disability based on DSM-5 classification - Name changed to Intellectual Disability - Diagnosis will be based on the level of adaptive functioning in three domains: **[conceptual, social, and practical skills]** - Four (4) severity levels: mild, moderate, severe, profound - **[IQ criteria NO LONGER central to the diagnosis]** - Age of onset during development period GLOBAL DEVELOPMENTAL DELAY {#global-developmental-delay.TransSubtopic1} -------------------------- - To be used only for individual **[\ 5 years of age]** whose **[intellectual functioning cannot be assessed]** due to sensory or physical impairments or severe problems in behavior or co-occurring mental disorders - Requires reassessment. - EPIDEMIOLOGY {#epidemiology.TransSub-subtopic2} ------------ - Prevalence - - - M:F is 4:1 - Causes: Prenatal, Perinatal, and/or Postnatal 🖊️ insults ETIOLOGY {#etiology.TransSub-subtopic2} -------- - Timing: - - - - - - - - Important to note that some of the cases could be caused by more than one etiology. EVALUATION OF CHILD WITH UNEXPLAINED GLOBAL DEVELOPMENT DELAY (GDD) OR INTELLECTUAL DELAY (ID) {#evaluation-of-child-with-unexplained-global-development-delay-gdd-or-intellectual-delay-id.TransSub-subtopic2} ----------------------------------------------------------------------------------------------  **Figure 2. Evaluation of child with unexplained GDD or ID. (See Appendix A)** - Before you start working them up with advanced laboratories, we should start with a good clinical history and PE MANAGEMENT {#management.TransSub-subtopic2} ---------- - Individualized treatment plan catering to the needs of the child - Interdisciplinary approach - Medical - - Non-specific, non-medical Family support and education Early intervention and special education VI. AUTISM SPECTRUM DISORDER (ASD): DSM 5 {#autism-spectrum-disorder-asd-dsm-5.TransOutline} ===================================== A puzzle umbrella with autism awareness Description automatically generated **Figure 3**. **Autism Spectrum Disorders.** Five Subtypes: - Autistic Disorder - Asperger's Disorder - Childhood Disintegrative Disorder - Pervasive Developmental Disorder -- Not otherwise specified **Diagnostic Criteria for ASD:**  **Figure 4. Diagnostic Criteria for ASD. (See Appendix B)** Includes these 2 distinct characteristics (red box) A. PERSISTENT DEFICITS IN SOCIAL COMMUNICATION AND INTERACTION {#a.-persistent-deficits-in-social-communication-and-interaction.TransSubtopic1} -------------------------------------------------------------- Manifests as the absence of attempts to initiate social interaction and a lack of responsiveness to social overtures. - - - - - ⭐**Deficits in non-verbal communication behaviors** are hallmarks of ASD - - 🖊️ *Expressive language ranges from nonverbal to verbally fluent. So the hallmark of autism spectrum disorder would be [deficits in nonverbal communication behaviors].* - - - Their social awkwardness often leaves them vulnerable to teasing and bullying B. RESTRICTED, REPETITIVE PATTERNS OF BEHAVIOR, INTERESTS, OR ACTIVITIES {#b.-restricted-repetitive-patterns-of-behavior-interests-or-activities.TransSubtopic1} ------------------------------------------------------------------------ The most common form of this repetitive pattern of behavior would be **echolalia**. - - - - - Use of highly ritualized phrases that have been memorized, from TV, or from overheard conversations - - **Stereotypical Movements (e.g., arm flapping or florid hand clapping)** - - - **Lining up objects or preoccupied with repetitive actions** - - - **Preoccupied with "sameness"** - - **Overreact or under-react to sensory input or sensory aspect of the surroundings** - C. EPIDEMIOLOGY {#c.-epidemiology.TransSubtopic1} --------------- - Prevalence: 1 in 68 children in 2010 (US) - - - M:F is 4:1 - Recurrent risk of up to 10.1% in families with one affected child; 25% if patient has 2 siblings with ASD - Extreme prematurity and with perinatal complications - - Advance parental age - Environmental factors - A close-up of a paper Description automatically generated **Figure 5**. **Red flags for social communication development.** 🖊️ *Since ASD is mainly deficit of social communication, I included this box for your review.* D. NEUROLOGIC EVALUATION {#d.-neurologic-evaluation.TransSubtopic1} ------------------------ - - - - - - - - - - - - - - E. DIAGNOSTIC EVALUATION {#e.-diagnostic-evaluation.TransSubtopic1} ------------------------ ⭐ Implicated in cases with co-existing medical conditions - - - - - For example, - Neuroimaging -- if patient has Focal Neurologic Deficits - EEG -- if presented with seizures - Chromosomal analysis and metabolic studies -- in cases that presents with congenital anomalies or patients with progressing symptoms F. COEXISTENT MEDICAL CONDITIONS {#f.-coexistent-medical-conditions.TransSubtopic1} -------------------------------- - - - - - - - - - G. EDUCATIONAL AND BEHAVIORAL INTERVENTIONS {#g.-educational-and-behavioral-interventions.TransSubtopic1} ------------------------------------------- 🖊️ *For the management, there are no medications that directly influence cognitive impairment. Controlling symptoms allow the child to maximize benefits from educational and behavioral treatment* - - - - - H. PHARMACOLOGIC THERAPY {#h.-pharmacologic-therapy.TransSubtopic1} ------------------------ 🖊️ *In children with comorbidities such as ADHD, bipolar disorder, obsessive compulsive disorder, and anxiety -- use of medication can be as high as 82%* - **Neuroleptics** - - - - **Serotonin Reuptake Inhibitors (SRIs)** - - - **Methylphenidate and Atomoxetine to treat ADHD** - - **Antiseizure medications** - - - ATTENTION DEFICIT-HYPERACTIVITY DISORDER (ADHD) {#attention-deficit-hyperactivity-disorder-adhd.TransOutline} =============================================== - refers to the covariation of inattention, hyperactivity, and impulsivity. - most common neurodevelopmental disorder would be - Three classifications: - ADHD/I -- primarily inattentive type - ADHD/HI -- primarily hyperactive-impulsive type - ADHD/C -- combined type (describe as predominance of both type) - **Partial Remission** - when full criteria were previously met, fewer than the full criteria have been met - for the past 6 months and the symptoms still results in impairment in social, academic, or occupational functioning*.* - 6 symptoms in each category should be fulfilled to make a diagnosis and symptoms should be present for at least six months - 6 symptoms + in 6 months - Adolescents and Adults \--\> at least 5 symptoms in each category should be fulfilled to make the diagnosis and symptoms are present in 2 or more settings such as home, school or at work - 5 symptoms + in 2 settings A. PREVALENCE {#a.-prevalence.TransSubtopic1} ------------- - 3-5% School aged children worldwide - M:F IS 3:1 - 3-5% of school-aged children worldwidePublic awareness regarding the disease makes the prevalence gradually increase - The fulfillment of 5 instead of 6 symptoms increased the census B. DIAGNOSTIC EVALUATION {#b.-diagnostic-evaluation.TransSubtopic1} ------------------------ - NO definitive diagnostic tests - Greatly depend on our best clinical judgement - Clinical Diagnosis only - Tests are only done if patient has comorbidities - Electroencephalography - Sleep studies - Imaging studies COMMON NEUROIMAGING FINDINGS {#common-neuroimaging-findings.TransSub-subtopic2} ---------------------------- - Small right frontal lobe- diminished regional blood in this area - Smaller cerebral volume, cerebellar and temporal gray matter - Reduced corpus callosum size - Decrease size of inferior cerebellar vermis - SPECT decrease cerebral glucose metabolism in prefrontal cortex - Abnormalities in basal ganglia, caudate nucleus in particular HOW ARE WE GOING TO DIAGNOSE THEM {#how-are-we-going-to-diagnose-them.TransSub-subtopic2} --------------------------------- - Information can be retrieved from: - Interviews (child, parents, teacher) - Standardized test questionnaire - Direct observation - Formal psychological and educational evaluation - Psychiatric consultation as needed CAUSES {#causes.TransSub-subtopic2} ------ - **No single underlying cause** - There has been no single underlying cause however genetics will play a big role and is attributed to the polymorphism of the dopamine transporter. - **Genetics** - Highly heritable (multiple genes, each with small effect size) - 1st degree relatives → 4-6-7.6-fold increase - 2nd degree → increased risk - Polymorphism of a dopamine transporter (DAT1) - **Nutritional factors** - Food additives, sugars, food allergies or sensitivities and EFA (does not precipitate behavioral problem) - Sodium benzoate intake (can contibute to ADHD like symptoms in children) - Studies have shown that role of food additives, sugars, and essential fatty acid does not precipitate behavioral problems. - However, intake of sodium benzoate, a common preservative that are present in soft drinks and fruit juices contribute to ADHD like symptoms in younger children. - **GDM and socioeconomic status** - Risk of children exposed to both gestational diabetes and low social economic status increases the risk of ADHD 14 folds. However, there was no effect if exposed to either of these two factors. NEUROLOGIC CLUES TO THE ETIOLOGY OF ADHD {#neurologic-clues-to-the-etiology-of-adhd.TransSub-subtopic2} ---------------------------------------- - Increased incidence of behavioral disorders, sociopathy, and alcoholism in families of children with ADHD - Resistance to thyroid hormone - Some studies suggest children with autism have smaller or functionally abnormal right frontal lobe, asymmetries and volume differences in the basal ganglia, corpus callosum, ventricular systems, and subcortical white matter. MEDICAL MANAGEMENT {#medical-management.TransSubtopic1} ------------------ - Treatment of ADHD is mainly pharmacologic - **Stimulants (Methylphenidate)** - most effective - Inhibits receptor uptake of dopamine by blocking the dopamine transporter (DAT1) - Most effective in symptomatic control of hyperactivity - Improvement in 70-80% of children with ADHD - Improving inhibition of hasty incorrect responses - Diminish impulsiveness - Permit more adaptive disposition of attention - Peak concentration -- 1 - 3hours; t~1⁄2~ of 3 hours - It has a peak concentration of 1 to three hours and half-life of three hours hence a dose in the mid or late afternoon is warranted to facilitate completion of homework. - **Norepinephrine Reuptake Inhibitors (Atomoxetine)** - Similar response with methylphenidate but with lesser side effects - llower appetite suppression; less insomnia - t~1⁄2~: 4 - 5 hours - LONGER hence once a day dosing is already sufficient. - **Α2 -- Adrenergic Receptor Agonists (Clonidine And Guanfacine)** - Alternative medications - Ameliorate ADHD symptoms, especially aggression - Use in non responders to stimulant NON-MEDICAL MANAGEMENT {#non-medical-management.TransSubtopic1} ---------------------- - **Behavioral** - Supportive psychotherapy for child and family -- helps reduce intrafamily tensions that may aggravate impulsive behavior - Behavioral intervention -- adjunct ONLY to medications - Strategies include: - Individual attention - Consistent reward of socially acceptable behavior - Consistent limit setting - Gradual phasing of learning materials PROGNOSIS {#prognosis.TransSubtopic1} --------- - Can persisit UNTIL adulthood - Impulsiveness and emotional lability usually persist - Aggressiveness is a feature; sometimes associated with early onset alcoholism - Increase incidence of car accidents with bodily injuries - Psychiatric comorbidities were pervasive - As to prognosis of ADHD, it **can persist until adulthood**. Symptoms such as impulsiveness, emotional lability, and aggressiveness can persist so incidents of car accident with bodily injuries also increased during adulthood and psychiatric comorbidities are common. DSM NEURODEVELOPMENTAL DISORDER {#dsm-neurodevelopmental-disorder.TransOutline} =============================== - Intellectual Disabilities - **Communication Disorders** - Autism Spectrum Disorder - Attention Deficit-Hyperactivity Disorder - Specific Learning Disorder - **Motor Disorder** DEFINITION OF TERMS {#definition-of-terms.TransSub-subtopic2} ------------------- - **Phonology** - Refers to correct use of speech sounds to form words For example, m, d, b - **Semantics** - Correct use of words - **Syntax** - Appropriate use of grammar to make sentences - **Pragmatics** - Verbal and nonverbal skills that facilitate exchanges of ideas - Such as appropriate body language like eye contact, postures and or gestures. - Social Pragmatic and behavioral skills also play an important role in effective interaction with communication partners such as engaging during a conversation, responding, and maintaining reciprocal exchanges. LANGUAGE DEVELOPMENT {#language-development.TransSubtopic1} -------------------- - These two (receptive and expressive) should be parallel to intellectual development - Receptive - Hearing and Understanding - Expressive - Talking abilities +-----------------------------------+-----------------------------------+ | **Table 5. DSM-V criteria for | | | Communication Disorder** | | +-----------------------------------+-----------------------------------+ | **Hearing and Understanding | **Talking (Expressive)** | | (Receptive)** | | +-----------------------------------+-----------------------------------+ | **Birth to 3 Months** | | +-----------------------------------+-----------------------------------+ | - Startles to loud sounds | - Makes pleasure sounds | | | **(cooing, going)** | | - Quiets or smiles when spoken | | | to | - **Cries differently for | | | different needs.** | | - Seems to recognize your voice | | | and quiet if crying. | - Smiles when sees you | | | | | - Increases or decreases | | | suckling behavior in response | | | to sound | | +-----------------------------------+-----------------------------------+ | **4 Month- 6 Months** | | +-----------------------------------+-----------------------------------+ | - Moves eyes in direction of | - Babbling sounds more | | sounds | speech-like, with many | | | different sounds, including | | - Responds to changes in tone | p, b, and m. | | of your voice | | | | - Vocalizes excitement and | | - Notices toys that make sounds | displeasure | | | | | - Pays attention to music | - Makes gurgling sounds when | | | left alone and when playing | | | with you | +-----------------------------------+-----------------------------------+ | **7 Months- 1 Year** | | +-----------------------------------+-----------------------------------+ | - Enjoys games such as | - Babbling has both long and | | peek-a-boo and pat-a-cake | short groups of sounds such | | | as tata; upup, bibibibi. | | - Turns and looks in the | | | direction of sounds | - Uses speech or non- crying | | | sounds to get and keep | | - Listens when spoken to | attention | | | | | - Recognizes words for common | - Imitates different speech | | items such as cup, shoe, and | sounds | | juice | | | | - Has 1 or 2 words (bye-bye, | | - Begins to respond to requests | dada, mama) although they | | (Come here; Want more?) | might not be clear | +-----------------------------------+-----------------------------------+ | **1-2 Years** | | +-----------------------------------+-----------------------------------+ | - Points to a few body parts | - Says more words every month | | when asked | | | | - Uses some 1--2-word questions | | - **Follows simple commands** | (Where kitty? Go bye-bye? | | and understands simple | What's that?) | | questions (roll the ball, | | | kiss the baby, where's your | - Puts 2 words together (more | | shoe?) | cookie, no juice, mommy book) | | | | | - Listens to simple stories, | - Uses many different | | songs, and rhymes | consonants sounds at the | | | beginning of words | | - Points to pictures in a book | | | when named | | +-----------------------------------+-----------------------------------+ | **2-3 Years** | | +-----------------------------------+-----------------------------------+ | - Understands differences in | - Has a word for almost | | meaning (go-stop, in- out, | everything | | big- little, up-down) | | | | - Uses 2-3 word "sentences" to | | - Follows 2-step requests (get | talk about and ask for things | | the book and put it in the | | | table) | - Speech is understood by | | | familiar listeners most of | | | the time | | | | | | - Often asks for or directs | | | attention to objects by | | | naming them | +-----------------------------------+-----------------------------------+ | 3. **Years** | | +-----------------------------------+-----------------------------------+ | - Hears you when you call from | - Talks about activities at | | another room | school or at friend's homes | | | | | - Hears television or radio at | - Usually understood by people | | the same loudness level as | outside the family | | other family members | | | | - Uses a lot of sentences that | | - Understands simple who, what, | have \>/=4 words | | where, & why questions | | | | - Usually talks easily without | | | repeating syllables or words | +-----------------------------------+-----------------------------------+ | **4-5 Years** | | +-----------------------------------+-----------------------------------+ | - Pays attention to a short | - Voice sounds as clear as | | story and answers simple | other children's | | questions about it | | | | - Uses sentences that include | | - Hears and understands most of | details (I like to read my | | what is said at home and in | books) | | schoo**l** | | | | - Tells stories that stick to a | | | topic | | | | | | - Says most sounds correctly | | | except a few such as l, s, r, | | | v, z, ch, sh, and th | | | | | | - Uses the same grammar as the | | | rest of the family | +-----------------------------------+-----------------------------------+ - At **26^th^ week AOG**, a fetus can respond and discriminate sounds, because of the **matured peripheral auditory system** - At **4-6 weeks** **cooing noises** and **crying** differently to different needs are established. Specific cry for pain, fuzziness, and tiredness. - **4-6 months,** they **search for the source of sound** with preference to human voice**.** - **Joint preference** is established where an infant can follow the adult's line of visual regards to objects and events in the environment. - **Phonology starts-** polysyllabic babbling, like mama, dudu, dada, - **9-10 months**, produce sounds like "**mama" and "dada"** pertaining to parents - **Infants** actively participates in **social play**, where he can comprehend the meaning of **"no"** and **follows simple command**s with or without gestures - Rate of acquisition of words: - 1 year old- 1 word per week - 2-year-old- 2 words per week - Continuously learns phrases and sentences, as expressive language accelerates so does receptive language also develops rapidly - 4-5 years old, children can follow adult conversations, listen to short stories, and answer simple questions. - In adult conversation can use adult like grammar and can use sentences that includes details. IX. LANGUAGE AND COMMUNICATION DISORDERS {#ix.-language-and-communication-disorders.TransOutline} ======================================== EPIDEMIOLOGY {#epidemiology-1.TransSubtopic1} ------------ - At 2 years old - Almost 20% have delayed onset of language - By 5 years old - 6% has speech impairment (expressive language disorder) - 8% having language impairment (receptive language disorder) - 5% have both speech and language impairment DSM-V DIAGNOSTIC CRITERIA FOR COMMUNICATION AND DISORDERS {#dsm-v-diagnostic-criteria-for-communication-and-disorders.TransSubtopic1} --------------------------------------------------------- LANGUAGE DISORDER {#language-disorder.TransSub-subtopic2} ----------------- ### {#section-1.ListParagraph} - Also known as; Specific language Impairment (SLI), or Developmental Language Disorder or Developmental Dysphasia - A significant discrepancy between the child's overall cognitive and functional language level. - For example if a child has a delay in talking, we could think of several factors such as: - Insufficient understanding of single words - Difficulty understanding the meaning of single word, sentences, and inability to deconstruct them - They could just repeat what you said or adapt lines from favorite tv shows or dialogues from movie without understanding its content. - When they become fluent talkers, their stories become shorter and fewer opinions, few ideas, and few grammar elements. Lack description on how they think or feel regarding the matter. - Onset of symptoms is in early developmental period and is not associated with other comorbidities. Show difficulty with social interactions, but differs to autism, they are dependent on all their children, and adult who could adapt and interpret for them #### **DSM-5 Diagnostic Criteria For Communication Disorder: Language disorder** {#dsm-5-diagnostic-criteria-for-communication-disorder-language-disorder.ListParagraph} - Persistent difficulties in the acquisition and use of language across modalities (i.e., spoken, written, sign language, or other) due to deficits in comprehension or production that include the following: - **Reduced vocabulary** (word knowledge and use). - **Limited sentence** structure (ability to put words and word endings together to form sentences based on the rules of grammar and morphology). - **Impairments in discourse** (ability to use vocabulary and connect sentences to explain or describe a topic or series of events or have a conversation). - **Language abilities** are substantially and quantifiably **below** those expected for age, resulting in functional limitations in effective communication, social participation, academic achievement, or occupational performance, individually or in any combination. - Onset of symptoms is in the **early developmental period**. - The difficulties are not attributable to hearing or other sensory impairment, motor dysfunction, or another medical or neurological condition and are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. SPEECH SOUND DISORDER {#speech-sound-disorder.TransSub-subtopic2} --------------------- - Phonation disorder or stuttering, leading to problems in speech sound production - Should not be associated with anatomical disorder or comorbidities #### **DSM-5 Diagnostic Criteria For Communication Disorder: Speech Sound Disorder** {#dsm-5-diagnostic-criteria-for-communication-disorder-speech-sound-disorder.ListParagraph} - Persistent difficulty with **speech sound production** that interferes with speech intelligibility or **prevents verbal communication of messages.** - The disturbance causes limitations in effective communication that interfere with social participation, academic achievement, or occupational performance, individually or in any combination. - Onset of symptoms is in the early developmental period. - The difficulties are **not attributable to congenital or acquired conditions**, such as cerebral palsy, cleft palate, deafness or hearing loss, traumatic brain injury, or other medical or neurological conditions. - Not associated with anatomic abnormalities or other comorbidities SOCIAL (PRAGMATIC) COMMUNICATION DISORDER {#social-pragmatic-communication-disorder.TransSub-subtopic2} ----------------------------------------- - Operative word for inappropriate verbal and social interaction. - There should be a common reference or understanding between the person or persons you are interacting with. - Otherwise, this result to appearance of talking or behavior randomly and incoherently *🖊️SPCD occurs in patients with ASD, but we cannot give a diagnosis as such because their behavior is attributed to their ASD\ * #### **DSM-5 Diagnostic Criteria For Communication Disorder: Social Pragmatic Communication Disorder** {#dsm-5-diagnostic-criteria-for-communication-disorder-social-pragmatic-communication-disorder.ListParagraph} - Persistent difficulties in the social use of verbal and nonverbal communication as manifested by all the following: - Deficits in using communication for social purposes, such as greeting and sharing information, in a manner that is appropriate for the social context. - Impairment of the ability to change communication to match context or the needs of the listener, such as speaking differently in a classroom than on a playground, talking differently to a child than to an adult, and avoiding use of overly formal language. - Difficulties following rules for conversation and storytelling, such as taking turns in conversation, rephrasing when misunderstood, and knowing how to use verbal and nonverbal signals to regulate interaction. - Difficulties understanding what is not explicitly stated (e.g., making inferences) and nonliteral or ambiguous meanings of language (e.g., idioms, humor, metaphors, multiple meanings that depend on the context for interpretation). - The deficits result in functional limitations in effective communication, social participation, social relationships, academic achievement, or occupational performance, individually or in combination - The onset of the symptoms is in the early developmental period (but deficits may not become fully manifest until social communication demands exceed limited capacities). - The symptoms are not attributable to another medical or neurological condition or to low abilities in the domains of word structure and grammar, and are not better explained by autism spectrum disorder, intellectual disability (intellectual developmental disorder), global developmental delay, or another mental disorder. DIFFERENTIAL DIAGNOSIS {#differential-diagnosis.TransSubtopic1} ---------------------- - Although language disorder can be in various disorder such as intellectual disability and autism. We cannot immediately label it as language disorder because they have preexisting condition such as the following: - **Asperger Syndrome** - Known as "**High Functioning ASD"**, characterized by difficulty in social interaction, eccentric behavior, and abnormally intense and circumscribed interest despite normal cognition and verbal ability. - They usually have a **long monologue** on the topic of interest with little regards to the reaction of others. - 🖊️ *(An example is Dr Sean Murphy from the series "The Good Doctor")* - **Selective Mutism** - **Failure to speaking in specific social situation** despite being able to speak in other situations. Don't want to speak in social settings such as home and or outside school. This is very common on patient with **anxiety disorder** - Isolated Expressive Language Disorder (Late Talker Syndrome) - A retrospect diagnosis, but once they start **talking** it is **clear.** - A **normal** variant of language development  **Figure 7. Differential Diagnosis for Communication Disorder.** MOTOR SPEECH DISORDERS {#motor-speech-disorders.TransOutline} ====================== - **Dysarthria** - Can originate from neuromotor disorders (e.g., cerebral palsy, muscular dystrophy, myopathy, and facial palsy) - Can affect both speech and non-speech functions - Such as smiling and chewing - Secondary to lack of strength and muscle control such as slurred speech or distorted bowels - Nasal speech can also be observed to secondary poor velopharyngeal function - Childhood apraxia of speech - They display oral groping or struggling behavior and uses gestures to communicate such as pointing or grunting. - Developing their own gestural communication system to overcome verbal difficulty - Speech sound disorder - Unintelligible sound even to their parents. An **articulation error**, due to **inability to correctly process the words** they hear. - Lack understanding to utilize sounds together to create words properly. - Unlike apraxia, they are still fluent, the only problem is how to process the sound they receive. - We should also rule out patients with hearing impairments or other anatomic problems such as hydrocephalus SPEECH AND LANGUAGE SCREENING {#speech-and-language-screening.TransSubtopic1} ----------------------------- - Developmental surveillance: This table helps screen children with speech and language impairment +-----------------------+-----------------------+-----------------------+ | **Table 6. Speech and | | | | Language screening.** | | | +-----------------------+-----------------------+-----------------------+ | Refer for Speech | | | | Language Evaluation | | | | If: | | | +-----------------------+-----------------------+-----------------------+ | **At Age** | **Receptive** | **Expressive** | +-----------------------+-----------------------+-----------------------+ | 15 months | Does not look/point | Is not using 3 words | | | at 5-10 objects | | +-----------------------+-----------------------+-----------------------+ | 18 months | Does not follow | Is not using mama, | | | simple directions | dada, or other names | | | (get your shoes) | | +-----------------------+-----------------------+-----------------------+ | 24 months | Does not point to | Is not using 25 words | | | pictures or body | | | | | | | | parts when they are | | | | | | | | named | | +-----------------------+-----------------------+-----------------------+ | 30 months | Does not verbally | Is not using unique | | | | 2-word | | | respond | | | | | phrases, including | | | or nod/shake head | noun-verb | | | | | | | to questions | combinations | +-----------------------+-----------------------+-----------------------+ | 36 months | Does not understand | Has vocabulary of | | | | \ - To rule out intellectual disability - Significant difference between nonverbal and verbal abilities (nonverbal IQ\verbal IQ); nonverbal score within average range - Rule out intellectual disability; important to evaluate children with language delays and both verbal and non-verbal skills - Evaluation of Social Behaviors - (+) interest in social interactions but with difficulty enacting their interest because of their limitations in communication - Key to differentiate children, with primary language disorder, where they have **interest in social interaction**, but with **difficulty to act out their interes**t due to limit in communication to those with limitation disorder secondary to ASD - **Speech and Language Evaluation** - Includes assessment of [language, speech and physical mechanisms associated with speech production] - All components will be assessed: syntax, semantics, pragmatics, and fluency - Standardized tools and informal observations - Hearing evaluation - **Medical Evaluation** - Birth and Maternal history - Ask for significant pre-natal abnormality such as polyhydramnios, decrease fetal movement, small for gestational age, history of encephalopathy. - Family history - Delayed talking or academic difficulty should be investigated as seen in clusters - Developmental history - Age when various skills are mastered or lost - Physical and neurologic examination - Abnormalities in head circumference and malformations, cleft lip or palate, neurofibromatosis, and abnormality on muscle tone. TREATMENT {#treatment.TransSubtopic1} --------- - Goal is focus on development of more **intelligible speech** - Expanding vocabular (lexicon) - Understanding the meaning of words (semantics) - Improving syntax by using proper forms - Learning to expand single words into sentences - Social use of language (pragmatics) - Individual/Group/Classroom sessions - No pharmacologic medication PROGNOSIS {#prognosis-1.TransSubtopic1} --------- - Excellent for "**late talkers"** - With mild isolated expressive language disorder - **Academic disorders (reading disorder)** - **Early language difficulty**, leading to later reading disorder. - Can read words but lack oral and reading comprehension. - Lack over all school achievement - **Emotional and behavioral difficulty (anxiety disorder)** - Children reported to have a slow progress in reading, writing and overall school achievement than in other school children in their age - **Difficult reading comprehension**, and **boys** with language disorder tend to develop ADHD, conduct or personality disorder - May develop anxiety disorder due to difficulty in reading comprehension and those with language disorder tend to develop ADHD, conduct and personality disorders. - **Motor and coordination delays** - Seen in 1/3 of children and ½ with language disorder. - Impact on ability to carry out activity of daily living (e.g., dressing, dating, eating, writing, coloring and social recreational activities) XI. CASE DISCUSSION (PLENARY SESSION) {#xi.-case-discussion-plenary-session.TransOutline} ===================================== **CASE 1** - Jerome, 11-year-old boy - Right-handed - Chief complaint - Afebrile seizure described as General Tonic-Clonic (GTCS) lasting for 2 minutes with loss of consciousness. - He was born PT (preterm) at 7 months AOG at a private hospital via CS, indication unrecalled - Body weight: 1.2kg - He was hooked to oxygen via Nasal Cannula upon birth - Mother remembers that Jerome stays in the NICU for 2 weeks and was given antibiotics - Antenatal History - Mother has history of fever for 3 days, lymphadenopathy and rashes at 3 months AOG - Past Medical History - At 1 y/o admitted due to pneumonia, discharged after a few days. - Family History - U/R (Unremarkable) - Immunization History - Complete c/o Local health center - Developmental History: - Good head control at 1 year old - Babbling at 18 months - Walks alone at 3 years old - Presently at kindergarten with fair academic performance - Speaks in sentences but not fluently; understands conversation - He can bathe himself and able to eat, on his own - Able to help in simple household chores - He can follow 2-step instructions but having difficulty in performing complex ones especially if activities are outside of their house Salient Features {#salient-features.TransSub-subtopic2} ---------------- - Preterm (7 mos AOG) - Low BW: 1.2 kg - Neonatal complication: hooked to oxygen via NC upon birth, 2 wks NICU, abx tx - Antenatal hx: mother hax hx of fever for 3 days, lymphadenopathy, rashes at 3 mos AOG - Developmental Delays: Jerome Normal Red Flag ----------------------------------------------------------------------------------------- -------- -------- ---------- Good head control 1 yo 3 mos 4 mos Babbling 18 mos 6 mos 10 mos Walks alone 3 yo 15 mos 18 mos Speaks in sentences but not fluently 11 yo 2 yo 36 mos Help in simple household chores 11 yo 2 ½ yo Difficulty in performing complex instructions; only able to perform 2-step instructions 11 yo 2 ½ yo 30 mos Reference: Dr. Punongbayan's Lecture on Growth and Development 2025 QUESTIONS {#questions.TransSub-subtopic2} --------- - **What is the most likely diagnosis or differential diagnosis for Jerome?** - **UNSPECIFIED INTELLECTUAL DISABILITY** - Initial assessment only, so "unspecified". - ⭐ When the time Jerome will be seeing a Developmental Pediatrician -- Specific Neurodevelopmental Disorder - Signs of delay -- basis for diagnosis - Red flags: Walks alone at 3 years old -- normally they can walk alone at 1 year old already, if a child doesn't walk alone more than 18 months (about 1 and a half years) old we consider it as a red flag. - ⭐ There is a developmental delay, however considering the age, Jerome is 11 years old -- patients with Global Developmental Delay should be in the age of 5 or less than 5 years old. - **What would be the risk factors of the patient for having an Intellectual Disability?** - Premature at 7 months AOG - Antenatal history: mother has history of fever for 3 days, lymphadenopathy and rashes at 3 months AOG (⭐ Rubella) - Stayed in NICU for 2 weeks probably due to sepsis - Birth weight: 1.2kg (normal term infants: 2.5kg-3.5kg) - **What is the level of his Intellectual Disability?** - 4 levels of IDD: Mild, Moderate, Severe, Profound - **SEVERE INTELLECTUAL DISABILITY** based on 3 domains: - Conceptual - Social - Practical - **What would be our treatment plan for Jerome?** - EEG -- to rule out epilepsy - CT/MRI -- to know the affectation (congenital/calcifications) considering that the mother had Rubella - ⭐ Cranial MRI -- best imaging to consider - Anti-seizure medications if warranted - Asses for his other comorbidities (behavioral disorders) - Speech and Occupational therapy - Special/support education - Educate parents, caregivers, teachers - **In the future, can Jerome be able to employ for a job?** - Yes, employable but should be in a sheltered environment - Instruct simple things **CASE 2** Refer to this link for the video: **A case of AUTISM SPECTRUM DISORDER (ASD)** - Desmond, 22 months old was diagnosed with Atypical Autism - Symptoms: - Feb 2012: - Unusual attachment to objects -- at this age, Desmond would be easily distracted by strollers. He would either play or sit in them for long periods of time. - Repetitive behaviors: Desmond's hand flapping: this stim usually happens when he is excited. - Nov 2012: - Sensory Processing -- signs of hearing sensitivity developed the same month of his 2nd birthday; His hands over his ears can mean different things: - It's too loud - Too many things are going on at once to process - A need to escape the environment - Dec 2012: - Repetitive Play -- Des is running back and forth over a hill while vocally stimming. He could happily do this for extended periods of time. - Unusual interest in objects -- Desmond was fascinated by sharp pointed objects. I took this opportunity to show through modeling that sharp objects hurt. - FYI: Desmond has never hurt himself with pointed objects. This is more about observation than utility. - March 2013 - Language Delay & Leading -- Desmond rarely used signs or spoken words to express wants or needs. - Instead, he would lead me by hand to desired items. - Tip: to encourage Desmond's communication skills, we helped him point at desired items. - June 2013 - Social -- Desmond is not making eye contact or responding to any of my questions. - Feb 2015 - Repetitive Vocal Stims -- here is more happy vocal stimming and sister enjoys copying her brothers stims! - May 2015 - Speaking of copying stims -- Turn this into a FUN game! Grab your phone or tablet and record it! - Make sure you can see your faces recording!! - Aug 2015 - Relating to Others -- sister is initiating play. Des does not quite know how to play back, BUT this is till fun for both!! - Language -- Desmond is coughing, but these are not really coughs. They are forms of communication. I helped him use his words so he can communicate his needs to his siter in a way she can understand. - Other symptoms not included in the video: - Spinning - Watching scrolling credits - Observing rotating objects - Echolalia - Problems sleeping - Remember, all children are unique! Autism symptoms vary from person to person. QUESTIONS {#questions-1.TransSub-subtopic2} --------- - **What would be the hallmark of ASD? Manifestations that Desmond had to diagnose him with Autism.** - ⭐ Deficits in non-verbal communication: - Lack of facial expression - Lack of eye contact - Lack of pretend play -- very scripted - Lack of integration of gestures - ⭐ Restricted repetitive patterns of behavior, interest or activities: - Hand flapping - Fixation to stroller - Running back and forth - Usually, the first symptom is speech delay followed by lack of pointing and leading - There are earlier manifestations that we can extract from a mother and a caregiver that would make us suspect a possible diagnosis of ASD (review) - **What other medical conditions/comorbidities should we work up?** - Intellectual disability -- majority of ASD patients has IDD - Epilepsy -- approximately 20% of ASD patients, give anti-seizure medications if needed - GI problems -- picky eater, only eats specific kinds of foods - **What would be our management for Desmond?** - Refer to Rehabilitation Medicine Specialists -- OT, Physiatrists, Speech Pathologists - Behavioral Therapy is the main management **CASE 3** Refer to this link for the video:  **A case of ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD)** - Billy, 8-year-old - Right-Handed - Chief Complaint: "sobrang likot" - Case Summary/Findings: - Poor organization - Easily distracted - Forgetful - Blurts out answers - Fidgets/squirms - Poor attention span - Leaves seat QUESTIONS {#questions-2.TransSub-subtopic2} --------- - **How to assess for ADHD?** **Figure 8. Assessment of ADHD (see Appendix)** - **What would be the criteria in the diagnosis of ADHD in Billy's case?** - Billy had 5 inattentive symptoms and 6 hyperactive symptoms +-----------------------------------+-----------------------------------+ | **Table. Findings/Symptoms seen | | | from Billy** | | +===================================+===================================+ | **Inattentive Symptoms** | **Hyperactive/Impulsive | | | Symptoms** | +-----------------------------------+-----------------------------------+ | - Has difficulty sustaining | - Fidgets/squirms | | attention | | | | - Has trouble staying seated | | - Poor organization | | | | - Is "on the go" | | - Loses things | | | | - Blurts out answer | | - Easily distracted by | | | extraneous stimuli | - Has difficulty awaiting turn | | | | | - Forgetful in daily activities | - Interrupts or intrudes on | | | others | +-----------------------------------+-----------------------------------+ - ⭐ For us to diagnose ADHD, there must be 6 of each (6 inattentive, 6 hyperactive/impulsive) - ⭐ Duration must be at least within 6 months - **What would be the diagnosis for Billy?** - Refer to the discussion on 3 types of ADHD - **Billy's diagnosis - ADHD Hyperactive/Impulsive type (ADHD-HI)** -- because he lacks one criteria to be considred ADHD-C - **What will be our plan of management?** - EEG -- to rule out epilepsy - ⭐ Common comorbidity among Neurodevelopmental disorders is Epilepsy - Give anti-seizure medication if needed - Sleep studies -- sometimes ADHD patients have sleeping disturbances - **What would be the treatment for Billy?** - Methylphenidate -- used to treat ADHD - Atomoxitine - to increase the ability to pay attention and decrease impulsiveness and hyperactivity in children - Clonidine - These medications are used to lessen hyperactivity and impulsiveness of ADHD patients - **What would be the prognosis?** - Since hyperactive, they are prone to injuries - Educate parents and caregivers -- to avoid areas where they can sustain injuries - Persist up to adulthood - Increased chance of psychiatric comorbidities - Possible Developmental Impacts: **Figure 9. Possible Developmental Impact (see Appendix)** ADDITIONAL READINGS {#additional-readings.TransOutline} =================== - See Learning and Developmental Disorders (Part IV) of Nelsons 21^st^ ed Chapters 48-54 - Chapter 49: ADHD - Chapter 53: Intellectual Disability - Chapter 54: ASD - See Figure \# Assessment of ADHD (Appendix) - See Figure \# Possible Developmental Impact in ADHD (Appendix) REFERENCES {#references.TransOutline} ========== - Adajar, J.A. (2024, August). Neurodevelopmental Disabilities (Lecture). - Menkes, J. H., Sarnat, H. B., & Maria, B. L. (2006). Child Neurology (7th ed.). Lippincott Williams & Wilkins. - Batch 2025 Trans APPENDIX ========  **Appendix. Possible Developmental Impact in ADHD**