cri du chat syndrome,
TRANSCRIPT
•
To the 5th clinical conference 2015Guided by: Ms. Joyce Mathai
Presented By: Mr. Mishal Musthafa Ms. Angel Binoy
TAKE A GOOD LOOK AT THE FOLLOWING PICTURES
. .
. .
DO YOU NOTICE ANY STRIKING FEATURES???????????
Small head (microcephally)
Low set earWidely spaced eyes (hypertelorism)Low broad nasal ridge
Small receding chin(micrognathia)
What comes to you mind when you hear about cri-du-chat syndrome??
Yes the “cat cry”!
The lesser known facts of CRI-DU-CHAT SYNDROME
Cri-Du-Chat is correctly pronounced as crē-dōō-shä'
www.merriam-webster.com/medical/cri%20du%20chat%20syndrome
Introduction:
• Cri du chat syndrome (CdCS or 5p-) is a genetic disorder caused by deletion of the end of the short arm of chromosome 5.
.• First described in 1963 by doctor
Jerome Lejeune, French geneticist, after the distinctive cat-like cry.Cri du chat translates into “cry of the cat”(French)
Characteristi
c cry of affected
infants, is similar to that of a meowing kitten, due to
problems with the
larynx and nervous system.
About 1/3 of children lose
the cry by age 2.
Unusual cry due to structural abnormalities of the larynx and CNS dysfunction
The laryngeal appearance may be normal or may exhibit marked anatomical abnormalities
such as floppy epiglottis, small larynx, and asymmetric vocal cords. However, the cause of
the characteristic cry cannot be entirely ascribed to the larynx.
Etiology:
. • caused by a partial deletion of a varying length of the short arm (p) of chromosome 5.
. • Each chromosome has a short arm designated “p” and a long arm designated “q”.
Karotype :
Normal baby's cry pitch= 400 hertz
A baby with Cri du chat = 1,000 hertz
A look into Literature
While identification of CdC has been done 30 years ago
Only few studies have been published about the behavioral and developmental characteristics
◊Affects 1 in 50,000 live births. Strikes all ethnicities
◊More common in females by 4:3 ratio Incidence and
Prevalence
Mainardi. P. C, 2006
General Signs and Symptoms
Physical Features
Partial webbing or fusing of fingers or
toes
Single line in the palm of the hand (simian crease
downward slant to the eyes
Small jaw (micrognathia) Wide-set eyes
Small head (microcephaly
hypotonia
growth retardation
a round face with full cheekshypertelorism
epicanthal folds
Down-slanting palpebral fissures
flat nasal bridge
down-turned mouth
strabismus
K. Cornish and D. Bramble
Developmental Delays
Motor delay
Speech and language delay
Cognitive delay
Behavioral Problems
Hyperactivity
Short Attention span Repetitive
movementstantrums
Irritability
Aggression
Other Co-morbid features:
low birth weight and poor growth
feeding problems because of
difficulty swallowing and
sucking.
excessive drooling
Mental Retardation Abnormal Bowel Movements
K. Cornish and D. Bramble, 2006
cardiac defects
patent ductus arteriosus [PDA], tetralogy of Fallot
(e.g., ventricular septal defect
[VSD], atrial septal defect [ASD],
Intellectual and
cognitive impairments
• IQ predominantly- moderate to severe
• Verbal IQ - plateau at10 years of age.
• Receptive > expressive language.
K. Cornish and D. Bramble, 2006
Self- injurious behavior,
stereotypy and aggressive behavior
• three core behaviors : head banging, hitting the head against body parts and self- biting
K. Cornish and D. Bramble, 2006
Attention Deficit and
Hyperactivity• Hyperactivity was observed
K Cornish and D Bramble, 2006
ASD in Cri du Chat syndrome, individuals were
observed.
During this observation, researchers noted 31% individuals with Cri du Chat syndrome showed behaviours that are associated ASD. E.g. repetitive movements.
ASD in CdC
Moss et al. 2008
Occasionally severe
May require hearing aids
Hypersensitive to sudden loud sounds
Auditory Problems in CdC
Communication in CdC
Oral speech seldom
develops
Severe language disorder
Possible hyper nasality
Children tend to be loving & very
social
Diagnosis
karyotyping FISH Chromosomal
studies Scientific
techniques
Chromosomal test can be done while in womb
Small sample of tissue or amniotic fluid
Method called CVS
TREATMENT:
Based on: Distinctive cry anBehavioural and developmental
problems
In accordance
with symptoms.
Surgery
Occupational Therapy
Physical Therapy
Speech Therapy
The treatment of cri du
chat syndrome
is direct
ed toward the specif
ic symptoms that are
apparent in each individual.
Treatment may
require the coordinated efforts of a team
of specialists
* • Early intervention is important in ensuring that children with cri du chat syndrome reach their highest potential
*• Services that may be beneficial may include
special remedial education, physical therapy, speech therapy, special services, and other medical, social, and/or vocational services.
* • Most children are enrolled in therapy before one year of age.
Team Members includes:
PaediatriciansorthopaedistsSurgeonsCardiologistsSpeech pathologistsNeurologistDentistPhysical TherapyOccupational therapists, Audiologists Other health care professionals
*• Surgery may be performed to treat a
variety of symptoms potentially associated with cri du chat syndrome including congenital heart defects, strabismus, scoliosis, clubfoot, cleft palate and cleft lip.
*• The survival for children with cri du chat is
generally good. Most syndrome related deaths occur within the first year of life. Several children have lived to be over 50 years of age
*• Genetic counselling is recommended for
affected individuals and their families. Other treatment is symptomatic and supportive.
Case Presentation
Case name: ABCAge/Sex: 3yrs/M
Brief HistoryChild came to Samvaad institute on 18/05/15 with the
complaint of not speaking age adequate. Earlier evaluation was done at a hospital in Australia and
diagnosed as cri-du-chat Syndrome. Child attended 6 sessions of speech therapy(PECS) in Australia
PRE-NATAL HISTORYMother had UTI Infection, Infection of Chest and low
blood pressureNATAL HISTORY
Full term Caesarean deliveryPOST NATAL HISTORY
History of respiratory distress, varied intonation cy contours,
H/o pneumonia (chest infection) at 9 months of age
DEVELOPMENTAL HISTORY:Motor milestones:
Head held up: 5 months Turn over: 8 months
Crawling: 18 monthsSitting: 18 months
Walked independently: 1.8 years Speech and language development:
Babbling: 3 years First word: not yet developed
Two word Phrases: Not yet achievedSentences: Not yet achieved
Sensory DevelopmentChild does not respond for Name Call and
Environmental SoundsMotor Skills
Child Walks with Support. Running and jumping not achieved
Fine Motor SkillsPalmer grasp present, pincer grasp not yet achieved
Activities Of Daily LivingDressing, Eating and Toilet control not achieved
ImitationMotor and speech imitation not yet developed
Vegetative SkillsBiting, Chewing, Licking, Swallowing, Sucking is
present. Blowing not yet achieved
Communication SkillsRECEPTIVE
Child is able to follow simple one step commands(inconsistent)
Receptive vocabulary:- 5-10 wordsExpressive
No meaningful expressive vocabulary. Inconsistent production of proto words.
Social SkillsEye Contact- FleetingSocial Smile- Absent
Initiates Interaction-NOPlays With Peer Group - NO
Unusual BehaviourChild Shows unusual behaviour such as wandering aimlessly, hyperactivity, Attention Deficit, no pointing
behaviour.
To validate the focus of our CC on the “lesser known facts of Cri-du chat syndrome .
A Behavioral and developmental profile was administered which has been developed by Cornish and
Pigram in the following study
Therapy GoalsVB-MAPP Targets TargetsMand Using signs:
-I-pad-Chocolate-Puzzle-Toy-Music-Bubbles
Reception (OSC) -Give hi-5-Clap Hands-Give shake hands-Touch Head
Reception (Object Identification) Ball and PenImitation -Touch cheeks
-Hands Up-Do rolly polly
Therapy GoalsVB-MAPP Targets TargetsObject imitation • Cup -drink with cup
-roll the cup• Spoon- stir with spoon - tap with spoon - Eat with spoon
Intra-verbal Twinkle-twinkleRolly-polly
Visual Performance 3-4 piece inset puzzleStacking rings(3-4)Blocks(3-4)
CONCLUSION
Each child with cdc syndrome is unique and we need to be aware about the syndrome because:
Features Vary.
Speech and Language Characteristics vary.
Prognosis And Rehabilitation Vary.
Counseling Varies.
Team Members Vary.
What can we do to broaden our perspectives about a syndrome???..
1.• Give importance to make a
clear note about other features other than only speech, language and hearing.
2. • Go back and research on these features to see if you find anything interesting.
1.• If an already diagnosed
syndrome case comes go back and read about the syndrome.
2. • See to it that counseling is done properly.
1. • Consult with other professionals regarding the syndrome.
2. • Regular follow up is advised.
01Support Groups
Summary
WINTERTemplate
01
????????Let’s Discuss……
Detailed profiling of various deficits seen with syndrome need to be incorporated
during the assessment test
battery Clinician must update
themselves on the current trends and
comorbid conditions seen with a rare
syndromeTreatment should be tailor made for each child depending on
the needs and features exhibited by the child irrespective
of the syndrome.
Take home message
A more realistic and optimistic portrayal of the syndrome should enable parents and professionals to deal more effectively with
the implications of a diagnosis of cri du chat syndrome .
References
Boonne.D.R, Mcfarlane, Von Berg, The voice and Voice Therapy, 7th edition, 2005, published by Pearson, Newyork
Carlin ME. The improved prognosis in cri du chat (5p-) syndrome, 1990 Cornish K. The neuropsychological profile of cri du chat syndrome O'Brien G.
Behavioural phenotypes and their measurement, 1996 Cornish K M and Pigram J, Achieves of diseases od childhood, 2006 Niebuhr E. Cytological observations in 35 individuals with 5p-karyotype2.Silber DL,
Engle E, Merrill RE, So called 'cri du chat syndrome'. American Journal of Mental Deficiency 1966;71: 486-91.
P.L Dhingra and Dhingra. S, Diseases of ear, nose and throat, 6th Edition, 2014, published by Elsevier india pvt.lmtd
Wilkins LE, Brown JA, Wolf B. Psychomotor development in 65 home-reared children with cri du chat syndrome , 1997