CDBC Assessment Consult Report

Chief Complaint

CDBC Assessment Report

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Date of Assessment: [date] CDBC Assessment Team Developmental Pediatrics: [name] Social Work: [name] Case Manager: [name] PATIENT ID & REASON FOR ASSESSMENT [patient_name] was seen in the Complex Developmental and Behavioural Conditions (CDBC) program on [date], accompanied by [relation], [name]. [patient_name] is a [age] male with a history of [genetic_condition], developmental delays, short stature and strabismus. He was referred by [relation], [name], in [date] for a question of query complex developmental concerns, including global developmental delay, overly friendly, limited sense of social boundaries and short stature in the context of his genetic difference. [patient_name] has many strengths, such as being a very happy, easy going and loving [pronoun], and able to light up a room. [patient_name] lives with [relation] and [number] older siblings in [address] and is followed in the community by [relation], [name]. History was obtained from patient and caregiver interview as well as available medical records. HISTORY OF DEVELOPMENTAL CONCERNS [patient_name]'s [relation] have had concerns since [pronoun] was an infant regarding slow development. [pronoun] has always made progress with [pronoun] developmental milestones, but taken much longer than other children. [pronoun] began to sit without assistance at [age], but was still not very stable, rolling around [age], took first step at [age] but wasn't walking much until [age]. [pronoun] is toilette trained, but needs help using the toilette, and needs assistance dressing [pronoun]self and opening [pronoun] lunch containers at school. [pronoun]'s been making some good progress since starting kindergarten in [date], speaking more, now in short sentences. [patient_name] has been reviewed by [name] in Medical Genetics in [date] (at [age]) and chromosomal microarray identified a large pathogenic deletion on [chromosome]. Per [relation]'s report, "this is a rare chromosomal deletion and the breakpoints of this deletion are unique to [patient_name], thus it is difficult to infer casualty from individuals reported in the literature." Common features of [number] individuals included [condition]. Inconsistently reported features included [condition]. Reassessment with genetics was recommended in [duration] if the family is interested to see if new information has become available. [pronoun] has not been seen by Genetics since. [patient_name] was also followed by [specialist], [name], due to gross motor delay. Investigations included brain MRI, which showed [condition]. [pronoun] was last seen in [date] and at that point [name] recommended ongoing peds monitoring, ongoing therapies with PT, SLP and IDP recommended, as well as family cautioned about potential for autism and/or seizures in the case of genetic disorders. No follow up planned. [patient_name] was referred to [relation], [name] due to [pronoun] developmental delays and then upon re-referral due to [relation]'s concern for potential autism. [patient_name] was seen in [date] with a developmental pediatrician, [name], for an online autism screening assessment, and [relation] concluded that a comprehensive autism assessment wasn't necessary. [relation] then referred [patient_name] to CDBC for further evaluation. [relation] also referred [pronoun] to Endocrinology due to short stature. A report from [patient_name]'s school from [date] indicated strengths including being cheerful and outgoing. [pronoun] challenges were in difficulty expressing why [pronoun] was upset, fine and gross motor skills, speech, difficulty following class instructions and hitting and pinching when upset. [pronoun] enjoys animals, play kitchen and being with peers. [pronoun] knows some letters and numbers, but below grade level. [pronoun] was noted to have challenges with balance and coordination, and grasping [pronoun] pencil and scissors. [pronoun] needs assistance with using the toilette and putting on [pronoun] coat and shoes. [pronoun] was noted to be very social, but working on giving others their personal space. SUMMARY OF PREVIOUS FORMAL ASSESSMENTS SLP Assessment Report from the CDC - [date] ([age]) with [name], SLP The assessment was done to support a private developmental assessment prior to kindergarten entry. [assessment_tool] to assess receptive language and standard score was [score] ([percentile] percentile). Expressive language was difficult to assess, but on report [pronoun] was noted to communicate with pointing and gestures, and use some single words and short phrases. Overall, receptive language was delayed and expressive language was significantly delayed. There were some traits of ASD, including difficulty with verbal communication, difficulty initiating joint attention, difficulty with personal space and rigidity, as well as repetitive hand mannerisms when excited. Psychology assessment was recommended. [assessment_tool] [date] ([age]) at [organization] showed significant delays in development in all domains, most significant in gross motor ([percentile] percentile) and expressive language ([percentile] percentile), with overall general developmental index in [percentile] percentile. DEVELOPMENTAL REVIEW Gross motor: -Sat independently at [age], but was still quite wobbly for some time -Took first step at [age] but didn't walk on [pronoun] own until [age] and used a walker for some time -[pronoun] is now able to walk well; not able to run but walks quickly -[pronoun] is able to go down stairs by crawling and able to go up by holding on to a hand or railing. -Not yet jumping; won't ride a trike or balance bike Fine motor/Oral motor: -[pronoun] handed (no one else in family is [pronoun] handed) -Able to scribble and copy a circle, but mostly scribbles. Can write a [letter] but will then scribble in circles -Not yet able to use scissors well -No difficulty with chewing or swallowing Adaptive: -Toilette trained during the day, but needs assistance to take [pronoun] pants up and down and wipe. Not yet trained at night. [pronoun] has frequent accidents at school due to [pronoun] teachers not knowing when [pronoun] needs to go. [pronoun] doesn't tend to tell a grown up, but [pronoun] parents know based on [pronoun] expressions and movements. -Needs assistance with dressing and undressing -Able to feed [pronoun]self; recently started using fork and spoon and previously would use [pronoun] hands Speech and Language: -Currently speaks in phrases or short sentences, about [number] words and this started recently since starting kindergarten -Speech is mostly intelligible to strangers -Seems to understand well and can follow multi step directions -Uses many gestures, such as directed point, waving, shaking [pronoun] finger for no no, and does a few signs, such as more Social/Emotional: -Enjoys being around [pronoun] classmates and is interested in peers. [pronoun] classmates will help [pronoun] take on and off [pronoun] jacket and hold [pronoun] hand in the playground. -[pronoun] has difficulty with personal space and boundaries, and likes to touch [pronoun] friend's faces -Lots of pretend play, such as enjoying using play kitchen and will pretend to cook and serve food, likes to pretend to be a doctor, will animate [pronoun] toys and has creative play Repetitive & Restricted Behaviours/Interests: -No clear sensory seeking behaviours or sensory aversions -[pronoun] loves [interest], but also plays with many other toys -No clearly unusual interests -No clear rigidity Cognitive/Academic: -[pronoun] knows a few letters and can count to [number]; behind grade level per school report -Knows colors -Does not know [pronoun] age (or won't say it when asked) Behaviour: No concerns Attention & Hyperactivity: Some difficulty sitting for circle time in school. [pronoun] will for some time and then will get up after a while before other classmates. [pronoun] is not always on the go and doesn't seem to be "driven by a motor". SCHOOL, SERVICES & SUPPORTS School: [school] Grade: [grade] IEP: In place Designation: [designation] Supports: [support], [pronoun] may be getting some SLP, but [pronoun] [relation] isn't certain. They are working on [pronoun] with some picture cards. [pronoun] is not getting any OT support. Community Supports: Previously followed before school entry by the [organization]. [pronoun] had PT, IDP and SLP support, and was also supported by Supported Child Development in preschool. Funding Supports: Extended health benefits are in place through [pronoun] [relation]'s employer. [pronoun] does not have the Disability Tax Credit or the At Home Program. Medical Care Team: -[relation]: [name] -[relation]: [name] - they have not seen [pronoun] since referral was placed in [date] and unsure if there will be follow up planned -[specialist]: [name] for [condition] [pronoun] has previously seen [specialist] ([name]), [specialist] ([name]) and a community endocrinologist, but is no longer following with these specialists. BIRTH & PRENATAL HISTORY Per review of medical records and confirmed with [pronoun] [relation], [patient_name]'s [relation] was [age] at the time of birth. [pronoun] had routine prenatal care and ultrasounds were normal, except [pronoun] detailed anatomy scan showed [condition]. Amniotic fluid volume and fetal movements were appropriate. There was no maternal infections or bleeding during pregnancy. Maternal serum screening was reportedly high risk. NIPT was low risk, thus no further testing done. There were no prenatal exposure to alcohol, tobacco, or illicit drugs. Baby was born at [gestational_age] via [delivery_method] at [hospital]. Birth weight was [weight] ([percentile] %ile), length [length] ([percentile] %ile) and HC [head_circumference] ([percentile] %ile). There was [condition] at birth and a [condition], easily removed. [pronoun] did not require resuscitation and Apgars were [score], [score] and [score] at [time], [time], and [time] minutes. There was [condition] during labor, and [pronoun] [relation] was treated with [medication]. Baby was found to have [condition] and placenta was sent for pathology and there was concern about potential [condition]. [patient_name] was transferred from [hospital] to [hospital] NICU for ongoing management and required [treatment], with improvement in [condition]. [pronoun] was discharged after [duration]. PAST MEDICAL HISTORY -[condition] on CMA and seen by Genetics in [date] (as described above) -[condition]; repeat ordered by Peds and parents have requisition and plan to do this soon -[condition]; wears glasses and followed by [specialist], [name]; [pronoun] has [condition] surgery with [name] -[condition]; [pronoun] was seen by a community peds endocrinologist, who told parents that [condition] likely due to [pronoun] genetic syndrome and no interventions planned -[condition] -Previously followed for [condition] by [specialist], [name]; last visit was in [date] and no follow up planned -History of [condition] thought to be due to [condition] (Resolved) MEDICATIONS None ALLERGIES: None known IMMUNIZATIONS: Up to date except has not yet had kindergarten vaccines; parents plan to do these soon REVIEW OF SYSTEMS: -Sleep: Goes to bed around [time] and is up at [time]. Once nightly, [pronoun] will scream and cry and then will go back to sleep. It's unclear if [pronoun] is awake or not, but this does happen very night. -Nutrition/Feeding: Good appetite and eats a varied diet. -Elimination: Occasional constipation. [pronoun] has urine accidents often at school due to [pronoun] teachers/support staff not knowing when to take [pronoun] to the restroom. -Seizures: None -Head Injuries: None -Dental: Follows with dentistry regularly. [pronoun] has had several dental extractions. -Hearing: No concerns; Audiology evaluation in [date] showed normal hearing. -Vision: Followed by [specialist] for [condition], status post [condition] surgery and wears corrective lenses SOCIAL HISTORY [patient_name] lives at home with [relation], [relation] and [number] older siblings ([ages]) in a house in [address]. [pronoun] paternal grandparents live in their basement suite. [pronoun] [relation] works as a [occupation] and [pronoun] [relation] works as a [occupation] and a [occupation]. They have extended health benefits through [pronoun] [relation]'s employer. They do not have concerns regarding their finances. FAMILY HISTORY [relation]: No known medical issues. [pronoun] graduated high school and then completed an [course]. [relation]: No known medical issues. [pronoun] graduated high school and then completed [course]. Siblings: [number] older siblings ([ages]) are healthy and doing well in school. No developmental concerns. There is no known family history of learning disabilities, intellectual impairment, ADHD, autism or any other known genetic or neurodevelopmental conditions. PHYSICAL EXAMINATION Height: [height] ([percentile] %ile, Z-score: [z_score]) Weight: [weight] ([percentile] %ile, Z-score: [z_score]) Head circumference: [head_circumference] (more than [number] SDs below mean ) General: [patient_name] appeared younger than [pronoun] age with significant short stature, [pronoun] was in no distress and was alert and calm HEENT: No clearly dysmorphic facial features noted. Face appeared symmetric. Missing a few teeth and a few caps, otherwise good dentition, wearing glasses Cardiovascular: Regular rate and rhythm, normal S1 and S2, no murmurs appreciated Respiratory: No increased work of breathing, clear to auscultation bilaterally with no wheezes, rales or rhonchi Neuro: Cranial nerves appeared grossly normal, but [pronoun] had some challenges cooperating with directions to assess fully. Muscle strength grossly normal in upper and lower extremities. Somewhat low tone throughout. DTRs [number] in upper and lower extremities with down going plantar response. Gait was balanced, somewhat shuffling, with pes planus. [pronoun] was unable to walk on tip toes, jump or run. Derm: Eczematous patches on forearms, no nevi or neurocutaneous stigmata Extremities: No visible deformities, no palmar crease or syndactyly. DEVELOPMENTAL OBSERVATIONS [patient_name] was happy and energetic throughout the encounter. Eye contact was well modulated and [pronoun] sought social connection on several occasions, for example, showing [pronoun] block tower with directed eye contact and saying "Ta da!", and then saying "bang!" and looking to the examiner for a response with a smile. [pronoun] spoke in short, mostly [number] word phrases, such as "were's mommy toy?" and "I'm [patient_name]!". [pronoun] speech was mostly intelligible, but there were a few minor speech sound errors. [pronoun] had a decent vocabulary, for example, identifying a "turtle" and "robot" and "frog". [pronoun] did echo on [number] occasions. [pronoun] had creative imaginary play, animating a dinosaur and action figure, and asking "where is the mom?" and then pretending a female toy was the person's mom. [pronoun] was unable to run but could walk quickly. [pronoun] was unable to walk on tip toes or do a two footed jump. For table top tasks, [pronoun] used [pronoun] left hand with a mostly fisted grasp and tried to write a "C", started with the curve then went into scribbling in circles. [pronoun] was able to identify a few letters, and proudly said "C for [patient_name]!" when [pronoun] saw a C. [pronoun] counted to [number], but [relation] reports [pronoun] can count to at least [number]. When asked how old [pronoun] was, [pronoun] answered "one!". IMPRESSION AND RECOMMENDATIONS [patient_name] is a sweet and friendly [age] boy with a history of a rare genetic deletion at [chromosome], developmental delay, short stature and strabismus, who was referred to CDBC regarding query complex developmental concerns. [pronoun] has many strengths, such as being very easy going, friendly and loving. [patient_name] has made slow progress with [pronoun] developmental skills, and remains delayed in all developmental domains. [pronoun] genetic difference is quite rare, but children with similar deletions have had intellectual developmental disorder (IDD), in addition to other differences. Further assessments are needed to better categorize [patient_name]'s cognitive profile, and to see if [pronoun] may meet criteria for IDD at this time. [patient_name] also has significant challenges with [pronoun] motor skills, and would benefit from further assessment with OT to provide recommendations for supports and accommodations at home and school. Psychology and OT evaluation through CDBC will be recommended and discussed with the team. [pronoun] has already had quite a few SLP assessments in the past through the CDC, thus we will hold off on a CDBC SLP evaluation at this time. [patient_name] had some lovely social communication skills on assessment, with good eye contact, creative imaginary play and joint attention, although does have a history of difficulty understanding other's personal space. There are no clear RRBs, although some potential repetitive speech (possible echolalia). At this point in time, the overall picture is more consistent with developmental delays in all domains and not autism spectrum disorder. [pronoun] presents as younger child, more consistent with a [age] across domains, and lower in some motor skills. [patient_name] is supported at school, but would benefit from additional therapies and supports at school, home and the community, and pending the results of additional CDBC assessments, we will then further discuss recommendations for more services and supports to best help [patient_name]. After [pronoun] assessment is complete, we also discussed re-referral to Medical Genetics to see if there is any new information regarding [pronoun] rare genetic syndrome. We also strongly recommend that [patient_name] have [pronoun] kindergarten vaccines soon. We will follow up with [patient_name]'s [relation] at the Family Conference and update this report at that time with the results of the assessment and further recommendations. It was a pleasure meeting [patient_name] and [pronoun] caregivers today. Please don't hesitate to reach out to [patient_name]'s CDBC Case Manager at [phone_numbers] if there are any questions. Thank you for involving us in [patient_name]'s care.