| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
19 MO |
| Sex |
Male |
| Age of Onset(If not a control) |
4 MO |
| Age at Diagnosis(If not a control) |
15 MO |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
DE NOVO AUTOSOMAL DOMINANT MUTATION IN SLC6A1: C.884 C>T (P.S295L); AUTOSOMAL DOMINANT V.O.U.S. IN CACNA1A INHERITED FROM MOTHER: C.5939A>C (P.E1980A) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
4 MONTHS |
| Age at Diagnosis: |
15 MONTHS - BY A GENETICIST |
| In Utero History Information |
| |
Assisted reproduction
|
| Additional Information: |
DIFFICULT PREGNANCY; NAUSEA AND VOMITING NEEDING MEDS; SUBCHORIONIC HEMORRHAGE AT 10 WEEKS GESTATION; NORMAL ULTRASOUNDS; HISTORY OF HYPOTENSION, TACHYCARDIA AND SYNCOPAL EPISODES |
| Birth History Information |
| |
Caesarian section
Premature delivery
|
| Additional Information: |
PRE-TERM TWIN (34 WEEKS); BIRTH WEIGHT 5 LB 6 OZ; HOSPITALIZED IN NICU FOR 3 1/2 WEEKS, WAS GAVAGE FED |
| Dysmorphic Features |
| |
Macrocephaly
|
| Neurological Symptoms |
| |
Seizures
|
| Additional Information: |
ABSENCE SEIZURES, MYOCLONIC-ATONIC EPILEPSY (ONSET FROM 7 MONTHS TO 6 YEARS, MEAN 3.7 YEARS); FORM OF EPILEPSY IS REFRACTORY; UNUSUAL POSTURING |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
|
| Sitting Without Assistance: |
Achieved and maintained |
| Additional Information: |
MILD-TO-MODERATE INTELLECTUAL DISABILITY; AT 13 MONTHS, WEIGHT 27%ILE, HEIGHT 24%ILE; |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Behavioral problems
Sleep disturbances
|
| Intellectual Disability: |
Moderate |
| Additional Information: |
MILD-TO-MODERATE INTELLECTUAL DISABILITY |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
ABNORMAL NEUROLOGICAL EXAM; NORMAL MRI; EMG: MILD CHRONIC MOTOR NEUROPATHY |
| Optical and Audiological Testing: |
DECREASED VISUAL PURSUIT AT 9 MONTHS |
| Respiratory and Cardiovascular Testing: |
EEG: IRREGULAR, HIGH AMPLE, AND GENERALIZED SPIKE-AND-WAVES |
| Cognitive and Behavioral Testing: |
FINE MOTOR COMPONENTS OF THE VINELAND -3 ADAPTIVE BEHAVIOR SCALES; BEHAVIOR AND ACTIVITY CONTRIBUTION TO THE AUTISM DIAGNOSTIC OBSERVATION SCHEDULE |
| Metabolic, Hematologic, and Endocrinologic Testing: |
MILDLY ELEVATED CK |
| Uncategorized Testing: |
MOTOR COMPONENTS OF THE BAYLEY SCALES OF INFANT AND TODDLER DEVELOPMENT |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Service animal
|
| Additional Testing: |
PSYCHOLOGICAL THERAPY |
| Medications |
| |
PREVIOUSLY ON MIRALAX |
| Family History |
| |
PARENTS DO NOT HAVE THE S295L MUTATION IN SLC6A1. INHERITED E1980A MUTATION IN CACNA1A FROM MOTHER |