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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

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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