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. 2022 May 24;10:881838. doi: 10.3389/fped.2022.881838

Table 1.

Follow-up data of the patient with Kleefstra syndrome-2 (KLEFS2) from 9 months to 10 years.

Event Treatment/testtime Interventions/test items Outcomes
Difficult feeding, developmental delay and eczema 9 months to
6 years
Amino acid-based high-energy formula and high-energy high-protein diet Emaciation and developmental delay were inconspicuously alleviated;
Eczema still existed.
6 to
8 years
High-energy high-protein diet Emaciation, developmental delay and eczema were not alleviated.
Anemia 9 months to
1 year
Ferrotherapy for 3 months Anemia was not obviously alleviated. Mild β-thalassemia was diagnosed.
Comprehensive developmental delay 1.58 years Children's Developmental Center of China (CDCC) MDI: 63, PDI <50
3.25 years Peabody Picture Vocabulary Test (PPVT) IQ:80 points
4.75 years Wechsler Preschool and Primary Scale of Intelligence (WPPSI-II) FIQ:90 points
7.1 years Wechsler Preschool and Primary Scale of Intelligence (WPPSI-II) FIQ:97 points
10.5 years Wechsler Intelligence Scale for Children (WISC-IV Chinese version) FIQ:87 points
Attention deficit 1.58 years Neglected by parents.
5.42 years Parents were trained about interventions and parenting skills Attention deficit was improved.
7.1 to
7.25 years
20 mg/d atomoxetine hydrochloride Irascibility and impulse behaviors.
7.25 to 8.1 years 18 mg/d atomoxetine hydrochloride Hyperactivity symptoms were improved, and attention deficit was not obviously improved.
Loss of body weight of 2 kg within 10 months.
9 to
10 years
1.25 mg/d aripiprazole Leaving a seat in the classroom was corrected, and impulsive behaviors were improved.
Body weight increased by 14 kg per year, especially the gain of abdominal fat.
10.42 years 18 mg/d methylphenidate hydrochloride Impulsive behaviors were improved. The body weight was followed up.
Kleefstra syndrome-2 10.42 years Being followed up

MDI, mental development index; PDI, physical development index; IQ, verbal intelligence quotient; FIQ, full-scale intelligence quotient.