| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
1 YR |
| Racial Category |
Asian |
| Country |
AUSTRALIA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
CLINICAL EXOME TRIO ANALYSIS REVEALED A MUTATION IN ADNP, C.2212DUPT: P.SER738PHEFS*6. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
1 YEAR AND 9 MONTHS |
| In Utero History Information |
| |
|
| Additional Information: |
POSTPARTUM DEPRESSION |
| Birth History Information |
| |
Difficulty breathing
|
| Additional Information: |
DID NOT CRY AT BIRTH & NEEDED RESUSCITATION; APGAR SCORES 6/10 AND 8/10 AT 1 AND 5 MINS; HAD MILDLY LOW SUGARS AND NEEDED SUPPLEMENTARY FORMULA; LETHARGIC; FEBRILE AND ABSENT SEIZURES; BREATH HOLDING SPASMS W/ UNCONSCIOUSNESS AT 3 MONTHS OF AGE (NOT ANY MORE SINCE 19 MONTHS OF AGE) |
| Dysmorphic Features |
| |
Strabismus
Hypotelorism
|
| Additional Information: |
LOW HAIR LINE; INVERTED V SHAPED UPPER LIP; LOW SET EARS |
| Neurological Symptoms |
| |
Seizures
Unstable gait
|
| Additional Information: |
EPISODES OF FEBRILE SEIZURE AT 6 AND 8 MONTHS;
EPISODE OF ABSENCE SEIZURE AT THE AGE OF 15 MONTHS; CORTICAL CYSTS |
| Optical and Audiological Symptoms |
| |
Congenital exotropia
|
| Additional Information: |
USES SIGN LANGUAGE AND PECS; EXOTROPIA PRESENT WITH NORMAL VISION |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
RESTRICTED FLEXION AND EXTENSION AT KNEES AND ANKLES WITH WIDE GAIT. |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
|
| Holding Head Up Without Assistance: |
Achieved and maintained |
| Sitting Without Assistance: |
Achieved and maintained |
| Walking Without Assistance: |
Achieved and maintained |
| Additional Information: |
INTELLECTUAL DELAYS
EARLY INTERVENTION FOR DEVELOPMENTAL DELAYS
PROGRESSING REMARKABLY IN GROSS MOTOR ABILITIES
IMPROVING FINE MOTOR AND VISOU-MOTOR ABILITIES
LEARNING RUNNING AND JUMPING |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
FOOD INTOLERANCE; CHOKING; FOOD SENSITIVITIES WITH ELIMINATION DIET |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Breathing irregularities
|
| Additional Information: |
BREATH HOLDING SPASMS CAUSING UNCONSCIOUSNESS UP TO THE AGE OF 19 MONTHS |
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Additional Information: |
ORAL SENSORY SEEKING; EXPRESSES ANGER BY CLENCHING AND TIGHTENING HIMSELF WITH CRYING AND SCREAMING; FLAPS HANDS AND BOUNCES WHEN HAPPY; HAS THE PRESENCE OF AUTISM LIKE FEATURES
NEED TO HAVE SOMEONE AROUND HIM ALL THE TIME;
DEPENDENT ON HIS CARE GIVERS FOR ALL ACTIVITIES OF DAILY LIVING |
| Additional Information |
| Uncategorized Symptoms: |
ECZEMA; FOOD ALLERGIES |
| Testing Performed |
| Neurological Testing: |
NORMAL EEG; MRI SHOWED CORTICAL CYSTS |
| Optical and Audiological Testing: |
EXOTROPIA PRESENT WITH NORMAL VISION; PLAY BASED AUDIOMETRY - NORMAL HEARING |
| Respiratory and Cardiovascular Testing: |
2DECHO (NORMAL) |
| Cognitive and Behavioral Testing: |
PLAY BASED ASSESSMENT |
| Metabolic, Hematologic, and Endocrinologic Testing: |
THYROID SCREENING (NORMAL); RENAL FUNCTION (NORMAL) |
| Uncategorized Testing: |
ALLERGY TESTING |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| |
EPI-PEN TO TREAT ALLERGIES
ELIMINATION DIET |
| Family History |
| Remarks |
Clinically affected. Cognitive and language delay. De novo heterozygous mutation c.2212dupT (p.Ser738Phefs*6) in the ADNP gene. See "Phenotypic Data" Tab. See "Phenotypic Data" Tab |