04/ p. 18p deletions. 18p Critical Regions
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1 18p 04/ p deletions 18p Critical Regions
2 18p (cen) Newborn Physical Findings (N=31) Neonatal complications 74% Feeding Difficulties 42% Respiratory Difficulties 29% Jaundice 29% Hypoglycemia 10% Muscle tone abnormalities 84% Hypotonia 71% Mix abnormal tone 13% Immediate Referral Early Childhood Developmental services (OT, PT, ST) - Developmental delay 100% Genetics evaluation and counseling - Parental chromosome analysis or FISH Ophthalmology evaluation Strabismus 2% Optic nerve abnormalities 13% Congenital cataracts 6% Refractive Errors 52% Astigmatism 29% Hyperopia 32% Myopia 13% Initial Physical evaluation for: Cardiac Abnormalities 29% Holoprosencephaly findings 13% Single central incisor 10% Septo-optic dysplasia 3% Pectus Excavatum 29% Hernia (Inguinal, hiatal, umbilical) 29% Monitor and Refer Seizures 16% Nystagmus 6% Kyphosis/ Scoliosis 19% Reflux 13% Consipation 32% Growth hormone deficiency 35% Panhypotitutarism 6% Thyroid abnormalities 16% Hearing loss 22% Recurrent ear infections 61% Findings reported in more than 25% of this population include: Muscle tone abnormalities 88% Transient neonatal complications 63% Chronic otitis media 56% Refractive errors 53% Findings on the holoprosencephaly spectrum 31% Constipation 31% Strabismus 31% Cardiac anomalies 25% Growth hormone deficiency 25% Other less common findings include seizures, scoliosis, pectus excavatum, ptosis, hearing loss, and thyroid abnormalities.
3 Deletion of entire short arm of 18p Behavior in 18p-(cen) Adults (BASC-2) n=15 Common Problems: Poor social skills 40% Avoiding social contact 40% No problems identified: Overly active and acting without thinking Engaging in anti-social and rule-breaking behaviors Incapacitating sadness or stress Easily distractible and unable to concentrate Deletion of part of the short arm of 18p Behavior in 18p-(non-centromere) Adults (BASC-2) n=17 Inability to adapt readily to changes 53% Inability to work with others for a common goal 50% Less common problems Nervous, fearful and worrisome tendencies 18% Easily distractible and unable to concentrate 12% Hostile and threatening behavior 6% Anti-social and rule-breaking behaviors 6% Executive Functioning in 18 p-(cen) Adults (BRIEF-A) n=16 Common Problems: Moving from one situation to another 69% Keeping track problem solving successes/failures 50% No problems identified: Inability to inhibit, resist, or not act on an impulse Executive Functioning in 18 p-(noncentromere) Adults (BRIEF-A) n=16 Tracking of problem solving successes/failures 75% Moving from one situation to another 75% Keeping work and living spaces orderly 63% Managing current and future oriented tasks 56% Remembering information to complete a task 56% Beginning a task or independently generate ideas 50% Modulating emotional response 50% Less common problems: The inability to inhibit, resist, or not act on impulse 19% Social Impairment in 18p- (cen) individuals Adults n=17 Common Problems Picking up on social cues 54% Repeating behaviors/ obsessing same routines 53% Expressing social communication 53% Less common problems: Interpreting social cues once they are picked up 47% Motivation to engage in social behavior 35% Social Impairment in 18p- (cen) individuals years n=14 Obsessing over the same routines and rituals 86% Interpreting social cues 79% Motivated to engage in social behavior 71% Social communication 71% Picking up on social cues 71% Social Impairment in 18p- (non-centromere) individuals Adults n=15 Repeating behaviors and obsessing over routines 67% Interpreting social cues 67% Picking up on social cues 60% Social communication 60% Motivation to engage in social behavior 60% Social Impairment in 18p- (non-centromere) individuals years n=18 Obsessing over the same routines and rituals 78% Pick up on social cues 72% Interpret social cues 67% Social communication 61% Less Common Problems Motivation to engage in social behavior 44%
4 18p- Natural History (>18 years) n=27 n=27 Living Situation: 18p-cen 18p-non-cen Live with their parents With parent in independent area 0 2 Supervised independent living program 0 2 Apartment alone 3 3 Group home 1 0 Unknown 8 5 Highest educational level: Did Not Complete High School 1 2 Attending High School 3 2 High School Graduate (certificate) 6 2 High School Graduate (diploma) 6 5 Attending College/University 1 2 Some College/University (no degree) 0 3 Associates Degree 2 4 Vocational School Degree/Certificate 0 2 Unknown 8 5 Martial Status/Children: Married (no) Married (unknown) 8 5 Separated / Divorced 0 1 Children (none) Children (unknown) 8 5 Work (Volunteer, Part-time, Full-time): Yes No 6 8 Unknown 8 5 Deceased 18p : Current Ages & Age at Death Current Age in years Age deceased Gender Cause of death Past medical history 13 years F Brain bleed post cardiac surgery 22 years 4 months F Pneumonia complicated by lupus Goldenhar syndrome; severe GE reflux; complex congenital heart disease Lupus nephritis; hypothyroid; adrenocorticotropic hormone deficiency
5 18p (cen) continued = Average score = the full range of scores = the normal range = normal IQ range = average IQ score = mild ID range = severe to profound = Average score = the full range of scores = normal range = at risk range = problem range
6 Chromosome 18p Dosage Sensitive Genes (66 genes in total on 18p) 1 1,000,000 CETN1 SMCHD1 EMILIN2 TGIF DLGAP1 CETN1 = Male infertility Our data: None evaluated 0/22 adult males are fathers SMCHD1 = FSH Dystrophy 2 Digeneic DUX4 2 nd gene (small array, A allele) Age of onset before age 20 Progressive muscle weakness (asymmetric); shoulders upper arms, lower leg Our data: 0/21 affected (8-30 years old; ave. age 18) 2/83 genetically at risk EMILIN2 -?? Or any of 20 genes Our data: 11 18p- = poor platelet function & 8 Tet18p = normal platelet function TGIF = Holoprosencephaly Our data: 6/65 (single central incisor, iris coloboma, piuitary abn.) LAMA1 LCCR30 ANKRD12 LAMA1 = Tortuous Retinal Vasculature and keratosis pilaris Our data: 1/32 had retinal vascular anomalies 7/79 keratosis pilaris - from chart review (common in typical population) GNAL = Dystonia (Muscle Cramps) Age of onset 31.3 yrs. Range 7-54 years Common effects = neck 82%, speech 92% Our data: neuro exam = 0/17 evaluated met criteria medical records = 2/58 had dystonia 10,000,000 IMPA2 GNAL AFG3L2 PTPN2 AFG3L2 = Spinalcerebellar ataxia 28 Age of onset 24 years Range 3-60 years Likelihood of diagnosis = 93% Slowly progressive gait & limb ataxia - incoordination 100% Dysarthria- motor speech problem with articulation 100% Our data: :0/15 met criteria (8-30 years old; ave. age 16) PTPN2 - Inflammatory bowel disease (IBD) Mice with only 1 copy of PTPN2 have increased susceptibility to inflammatory bowel disease (IBD) Genetic Studies: Our data: Crohn s Disease & Ulcerative Colitis Rheumatoid arthritis Type 1 Diabetes?? 0/67 have IBD 11/67 had an autoimmune condition (juvenile rheumatoid arthritis, Sjogrens syndrome, hypothyroidism, graves, celiac, vitiligo, psoriasis, and alopecia) hg19 Centromere DLGAP1, LCCR30. ANKRD12, IMPA2 = implicated in autism Our data: 8/56 clinically significant GARS scores
Ring 18 04/2017. Mosaicism (N=30) No mosaicism 53% Ring18/ monosomy 18 27% Ring 18/ der 18 13% Ring 18/ nl 18 3% Ring 18/ nl 18/ mono 18 3%
04/2017 Ring 18 Mosaicism (N=30) No mosaicism 53% Ring18/ monosomy 18 27% Ring 18/ der 18 13% Ring 18/ nl 18 3% Ring 18/ nl 18/ mono 18 3% % GH deficiency 93 Hypotonia 92 Hearing Loss 80 Chronic otitis
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PATIENT HISTORY FORMS FOR OUTPATIENT CONSULTATION Patient Instructions: Fill out all other forms including this one to get you registered. Print this one out and then go to forms to get your financial
NEUROLOGICAL SURGERY, P.C.
NEUROLOGICAL SURGERY, P.C. PATIENT INFORMATION Name Date of Birth Age Address City Sate NY Zip Home ( ) - Cell ( ) - Work ( ) - Ext: Email Address _ Sex M F Soc. Sec. #: / / Single Married Widowed Separated
Legal aspects in accidents and neglect.
Al-Al Bayt University Princess Salma Faculty of Nursing Adult Health nursing Course Title :Child Health Nursing Course Number :1001341 Credit Hours :3 Pre requisite :1001222 Placement : Instructor:,, Course
Physician initials. Date: / / Birthdate: / / Age: Sex: F M
Arthritis and Rheumatology Clinical Center of Northern Virginia R RHEUMATOLOY PATIENT HISTORY FORM Date: / / NAME: Last First M. I. Birthdate: / / Age: Sex: F M Marital status: Never married Married Divorced
The child with hemiplegic cerebral palsy thinking beyond the motor impairment. Dr Paul Eunson Edinburgh
The child with hemiplegic cerebral palsy thinking beyond the motor impairment Dr Paul Eunson Edinburgh Content Coming to a diagnosis The importance of understanding the injury MRI scans Role of epilepsy
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Patient Name: Date of Birth: Marital Status: Single Married Divorced Widowed Height: Referring Doctor: Weight: Primary Care Dr.: Preferred Pharmacy:(name/address) ALLERGIES: Do you have any drug allergies?
City State Zip. Cell Phone. Other Phone. Gender Male Female Status Single Married Divorced Widowed. Height Weight EXERCISE Yes No Times per Week
Patient Name (First Middle Last) Date of Birth Social Security # Address City State Zip Home Phone Work Phone Cell Phone Other Phone Email Place of Birth Occupation Retired Yes No Gender Male Female Status
Morris Medical Center, P.A.
Today s date: Name : Age Date of Birth Height Weight Right hand dominant Left hand dominant Sex: Male Female Chief Complaints; Current Pain Level (0 ~ 10) 0 1 2 3 4 5 6 7 8 9 10 Average Pain Level (0 ~
NEW PATIENT INFORMATION
NEW PATIENT INFORMATION Personal Mr. Ms. Mrs. Miss Dr. Other Last Name First Name MI Home Address City State Zip Mail Address City State Zip Is This a Nursing Home? Facility Name Telephone # Cell Phone
Enter appropriate # from box below: Siblings (list brother and sisters): Name DOB Psychological, Developmental or Learning Problems (describe)
Person Completing Form: Date: Referred By: Address Phone #: E-mail: Currently living with: (e.g., both biological parents, single biological parent, foster parent[s], adoptive parent[s], roommate, spouse,